rs368507952 Rat Genome Database

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Variant: rs368507952 -  Homo sapiens

RGD ID: 13495072
RS ID: rs368507952
ClinVar ID: CV466967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127885245  MC1R  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,986,583
GRCh38 16 89,920,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.89920175G>A
NC_000016.9:g.89986583G>A
NG_012026.1:g.7297G>A
NP_002377.4:p.Arg306His
More... 		06/18/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance Albinism 2; ALBINISM II; Albinism, oculocutaneous, type II; Albinoidism; Cutaneous malignant melanoma 5
Disease Annotations     Click to see Annotation Detail View

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
GCST006986 Red vs. brown/black hair color 15,731 British ancestry red hair individuals, 283,920 British ancestry brown or black hair individuals A 4.156E-4 2E-93 92.69897000433602 Affymetrix [9154080] (imputed) 71.08 hair color (EFO:0003924)
 PMID:30531825
GCST90041837 Hair colour (natural, before greying): Red (UKB data field 1747_2) 20,692 European ancestry cases, 434,472 European ancestry controls A 3.475E-4 6E-39 38.221848749616356 NR [11842647] (imputed) 4.0 hair colour measurement (EFO:0007822)
 PMID:34737426

Variant Details
Variant Transcripts
Gene Symbol:MC1R
Accession:NM_002386
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLHSPMYCFICCL
ALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPR
ARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELHRTLKEVLTCSW*
Variant Samples
Additional References at PubMed
PMID:16645598   PMID:16982779   PMID:19269164   PMID:23312576   PMID:23360207   PMID:24982914   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000559368 CLINVAR
  RCV002250656 CLINVAR
dbSNP (RS) rs368507952 CLINVAR
GWAS Catalog GCST006986 GWAS Catalog
MedGen C0268495 CLINVAR
  C2751295 CLINVAR
NCBI Gene MC1R CLINVAR
OMIM 155555 CLINVAR
  203200 CLINVAR
  613099 CLINVAR
SNOMED CT 26336006 CLINVAR