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rs62635018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62635018(A;A)
Make rs62635018(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position9765714
GeneGPR143
is asnp
is mentioned by
dbSNPrs62635018
dbSNP (classic)rs62635018
ClinGenrs62635018
ebirs62635018
HLIrs62635018
Exacrs62635018
Gnomadrs62635018
Varsomers62635018
LitVarrs62635018
Maprs62635018
PheGenIrs62635018
Biobankrs62635018
1000 genomesrs62635018
hgdprs62635018
ensemblrs62635018
geneviewrs62635018
scholarrs62635018
googlers62635018
pharmgkbrs62635018
gwascentralrs62635018
openSNPrs62635018
23andMers62635018
SNPshotrs62635018
SNPdbers62635018
MSV3drs62635018
GWAS Ctlgrs62635018
Max Magnitude0
OMIM300808
Desc
Variant0008
Relatedalso


ClinVar
Risk rs62635018(A;A)
Alt rs62635018(A;A)
Reference Rs62635018(G;G)
Significance Pathogenic
Disease Ocular albinism not provided
Variation info
Gene GPR143
CLNDBN Ocular albinism, type I not provided
Reversed 1
HGVS NC_000023.10:g.9733754C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011267.2, RCV000084909.1,