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rs137852297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852297(A;A)
Make rs137852297(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position9743637
GeneGPR143
is asnp
is mentioned by
dbSNPrs137852297
dbSNP (classic)rs137852297
ClinGenrs137852297
ebirs137852297
HLIrs137852297
Exacrs137852297
Gnomadrs137852297
Varsomers137852297
LitVarrs137852297
Maprs137852297
PheGenIrs137852297
Biobankrs137852297
1000 genomesrs137852297
hgdprs137852297
ensemblrs137852297
geneviewrs137852297
scholarrs137852297
googlers137852297
pharmgkbrs137852297
gwascentralrs137852297
openSNPrs137852297
23andMers137852297
SNPshotrs137852297
SNPdbers137852297
MSV3drs137852297
GWAS Ctlgrs137852297
Merged fromRs28935185
Max Magnitude0
OMIM300808
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852297(A;A) rs137852297(T;T)
Alt rs137852297(A;A) rs137852297(T;T)
Reference Rs137852297(C;C)
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.9711677G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011264.5, RCV000084940.1,