rs534447939 Rat Genome Database

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Variant: rs534447939 - Homo sapiens

RGD ID:

9834835

RS ID:

rs534447939

ClinVar ID:

CV181024

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TP53

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	7,579,442
GRCh38	17	7,676,124

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_321t7:c.-909C>T LRG_321:g.16427C>T NG_017013.2:g.16427C>T NM_000546.4:c.245C>T More...	08/28/2019	2kb upstream variant\|genic upstream transcript variant\|missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	Cancer breast; Cancer predisposition; Carcinoma, squamous cell of head and neck; Head and neck squamous cell carcinoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Sarcoma family syndrome of Li and Fraumeni; Squamous cell carcinoma, head and neck, somatic; TP53-related condition; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

breast cancer (IAGP)

head and neck squamous cell carcinoma (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Li-Fraumeni syndrome (IAGP)

Li-Fraumeni syndrome 1 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Breast carcinoma (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TP53
Accession:	NM_001276761
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407269
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407267
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126113
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001407263
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407271
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001126118
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001276760
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_000546
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407265
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407270
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001276696
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407268
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407264
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407266
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126114
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001276695
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001407262
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126112
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TLAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NR_176326
Location:	EXON;NON-CODING

Gene Symbol:	TP53
Accession:	NM_001126117
Location:	INTRON

Gene Symbol:	TP53
Accession:	NM_001276699
Location:	INTRON

Gene Symbol:	TP53
Accession:	NM_001276697
Location:	INTRON

Gene Symbol:	TP53
Accession:	NM_001276698
Location:	INTRON

Gene Symbol:	TP53
Accession:	NM_001126115
Location:	INTRON

Gene Symbol:	TP53
Accession:	NM_001126116
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:8710380	PMID:12826609	PMID:15964795	PMID:17606709	PMID:20128691	PMID:21343334	PMID:24256616	PMID:25741868	PMID:26467025	PMID:28202063	PMID:28492532	PMID:28861920
PMID:30224644	PMID:30840781	PMID:33300245	PMID:33309985	PMID:33471991

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000161047	CLINVAR
	RCV000205955	CLINVAR
	RCV000213048	CLINVAR
	RCV000989726	CLINVAR
	RCV001250438	CLINVAR
	RCV001355900	CLINVAR
	RCV003965183	CLINVAR
dbSNP (RS)	rs534447939	CLINVAR
MedGen	C0006142	CLINVAR
	C0027672	CLINVAR
	C0085390	CLINVAR
	C1168401	CLINVAR
	C1835398	CLINVAR
	C3661900	CLINVAR
NCBI Gene	TP53	CLINVAR
OMIM	151623	CLINVAR
	191170	CLINVAR
	275355	CLINVAR
SNOMED CT	254837009	CLINVAR
	428850001	CLINVAR
	699346009	CLINVAR
	716659002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: rs534447939 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs534447939 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar