rs2266782 Rat Genome Database

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Variant: rs2266782 -  Homo sapiens

RGD ID: 8601183
RS ID: rs2266782
ClinVar ID: CV38476
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FMO3  LOC126805916  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 171,076,966
GRCh38 1 171,107,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.171107825G>A
NM_006894.4:c.472G>A
NC_000001.10:g.171076966G>A
P31513:p.Glu158Lys
More... 		08/10/2021 missense|missense variant pathogenic|benign AllHighlyPenetrant; Fish malodor syndrome; FISH-ODOR SYNDROME; none provided; Stale fish syndrome; TMAuria
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90239826 Free testosterone levels 158,089 British ancestry women ? NR 2E-8 7.698970004336019 Affymetrix [17239132] (imputed) 0.019645 testosterone measurement (EFO:0004908)
 PMID:36653534
GCST90239824 Free androgen index 158,208 British ancestry women ? NR 2E-9 8.698970004336019 Affymetrix [17239132] (imputed) 0.020819 free androgen index (EFO:0007005)
 PMID:36653534
GCST90012102 Bioavailable testosterone levels 188,507 European ancestry women A 0.41681999999999997 3E-11 10.522878745280337 Affymetrix [16585745] (imputed) 0.0161462 testosterone measurement (EFO:0004908)
 PMID:32042192

Variant Details
Variant Transcripts
Gene Symbol:FMO3
Accession:NM_001002294
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKKVAIIGAGVSGLASIRSCLEEGLEPTCFEKSNDIGGLWKFSDHAEEGRASIYKSVFSNSSKEMMCFPDFPFPDDFPN
FMHNSKIQEYIIAFAKEKNLLKYIQFKTFVSSVNKHPDFATTGQWDVTTERDGKKESAVFDAVMVCSGHHVYPNLPKKSF
PGLNHFKGKCFHSRDYKEPGVFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMSRVWDNGYPWDMLLVTRFG
TFLKNNLPTAISDWLYVKQMNARFKHENYGLMPLNGVLRKEPVFNDELPASILCGIVSVKPNVKEFTETSAIFEDGTIFE
GIDCVIFATGYSFAYPFLDESIIKSRNNEIILFKGVFPPLLEKSTIAVIGFVQSLGAAIPTVDLQSRWAAQVIKGTCTLP
SMEDMMNDINEKMEKKRKWFGKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLAMEVYFGPCSPYQFRLVGPGQWP
GARNAILTQWDRSLKPMQTRVVGRLQKPCFFFHWLKLFAIPILLIAVFLVLT*

Gene Symbol:FMO3
Accession:NM_006894
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKKVAIIGAGVSGLASIRSCLEEGLEPTCFEKSNDIGGLWKFSDHAEEGRASIYKSVFSNSSKEMMCFPDFPFPDDFPN
FMHNSKIQEYIIAFAKEKNLLKYIQFKTFVSSVNKHPDFATTGQWDVTTERDGKKESAVFDAVMVCSGHHVYPNLPKKSF
PGLNHFKGKCFHSRDYKEPGVFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMSRVWDNGYPWDMLLVTRFG
TFLKNNLPTAISDWLYVKQMNARFKHENYGLMPLNGVLRKEPVFNDELPASILCGIVSVKPNVKEFTETSAIFEDGTIFE
GIDCVIFATGYSFAYPFLDESIIKSRNNEIILFKGVFPPLLEKSTIAVIGFVQSLGAAIPTVDLQSRWAAQVIKGTCTLP
SMEDMMNDINEKMEKKRKWFGKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLAMEVYFGPCSPYQFRLVGPGQWP
GARNAILTQWDRSLKPMQTRVVGRLQKPCFFFHWLKLFAIPILLIAVFLVLT*

Gene Symbol:FMO3
Accession:NM_001319174
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKKVAIIGAGVSGLASIRSCLEEGLEPTCFEKSNDIGGLWKFSTFVSSVNKHPDFATTGQWDVTTERDGKKESAVFDAV
MVCSGHHVYPNLPKKSFPGLNHFKGKCFHSRDYKEPGVFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMSR
VWDNGYPWDMLLVTRFGTFLKNNLPTAISDWLYVKQMNARFKHENYGLMPLNGVLRKEPVFNDELPASILCGIVSVKPNV
KEFTETSAIFEDGTIFEGIDCVIFATGYSFAYPFLDESIIKSRNNEIILFKGVFPPLLEKSTIAVIGFVQSLGAAIPTVD
LQSRWAAQVIKGTCTLPSMEDMMNDINEKMEKKRKWFGKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLAMEVYF
GPCSPYQFRLVGPGQWPGARNAILTQWDRSLKPMQTRVVGRLQKPCFFFHWLKLFAIPILLIAVFLVLT*

Gene Symbol:FMO3
Accession:NM_001319173
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPASTRSQKRQGMDSLLEPLKMNMDHAEEGRASIYKSVFSNSSKEMMCFPDFPFPDDFPNFMHNSKIQEYIIAFAKEKNL
LKYIQFKTFVSSVNKHPDFATTGQWDVTTERDGKKESAVFDAVMVCSGHHVYPNLPKKSFPGLNHFKGKCFHSRDYKEPG
VFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMSRVWDNGYPWDMLLVTRFGTFLKNNLPTAISDWLYVKQM
NARFKHENYGLMPLNGVLRKEPVFNDELPASILCGIVSVKPNVKEFTETSAIFEDGTIFEGIDCVIFATGYSFAYPFLDE
SIIKSRNNEIILFKGVFPPLLEKSTIAVIGFVQSLGAAIPTVDLQSRWAAQVIKGTCTLPSMEDMMNDINEKMEKKRKWF
GKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLAMEVYFGPCSPYQFRLVGPGQWPGARNAILTQWDRSLKPMQTR
VVGRLQKPCFFFHWLKLFAIPILLIAVFLVLT*

Gene Symbol:FMO3
Accession:XM_047416207
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPASTRSQKRQGMDSLLEPLKMNMDHAEEGRASIYKSVFSNSSKEMMCFPDFPFPDDFPNFMHNSKIQEYIIAFAKEKNL
LKYIQFKTFVSSVNKHPDFATTGQWDVTTERDGKKESAVFDAVMVCSGHHVYPNLPKKSFPGLNHFKGKCFHSRDYKEPG
VFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMSRVWDNGYPWDMLLVTRFGTFLKNNLPTAISDWLYVKQM
NARFKHENYGLMPLNGVLRKEPVFNDELPASILCGIVSVKPNVKEFTETSAIFEDGTIFEGIDCVIFATGYSFAYPFLDE
SIIKSRNNEIILFKGVFPPLLEKSTIAVIGFVQSLGAAIPTVDLQSRWAAQVIKGTCTLPSMEDMMNDINEKMEKKRKWF
GKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLAMEVYFGPCSPYQFRLVGPGQWPGARNAILTQWDRSLKPMQTR
VVGRLQKPCFFFHWLKLFAIPILLIAVFLVLT*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248637 CLINVAR
  RCV000361492 CLINVAR
  RCV001668146 CLINVAR
  RCV002251938 CLINVAR
dbSNP (RS) rs2266782 CLINVAR
GWAS Catalog GCST90012102 GWAS Catalog
MedGen C0342739 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FMO3 CLINVAR
  LOC126805916 CLINVAR
OMIM 136132 CLINVAR
  602079 CLINVAR
SNOMED CT 237959005 CLINVAR