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rs121912620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912620(C;T)
Make rs121912620(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position33944784
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs121912620
ebirs121912620
HLIrs121912620
Exacrs121912620
Varsomers121912620
Maprs121912620
PheGenIrs121912620
hapmaprs121912620
1000 genomesrs121912620
hgdprs121912620
ensemblrs121912620
gopubmedrs121912620
geneviewrs121912620
scholarrs121912620
googlers121912620
pharmgkbrs121912620
gwascentralrs121912620
openSNPrs121912620
23andMers121912620
23andMe allrs121912620
SNP Nexus

SNPshotrs121912620
SNPdbers121912620
MSV3drs121912620
GWAS Ctlgrs121912620
Max Magnitude0
OMIM606202
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912620(T;T)
Alt rs121912620(T;T)
Reference rs121912620(C;C)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 1
HGVS NC_000005.9:g.33944889G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004760.3,