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rs121912619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912619(C;C)
Make rs121912619(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position33951628
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs121912619
ebirs121912619
HLIrs121912619
Exacrs121912619
Varsomers121912619
Maprs121912619
PheGenIrs121912619
hapmaprs121912619
1000 genomesrs121912619
hgdprs121912619
ensemblrs121912619
gopubmedrs121912619
geneviewrs121912619
scholarrs121912619
googlers121912619
pharmgkbrs121912619
gwascentralrs121912619
openSNPrs121912619
23andMers121912619
23andMe allrs121912619
SNP Nexus

SNPshotrs121912619
SNPdbers121912619
MSV3drs121912619
GWAS Ctlgrs121912619
Merged fromRs28939380
Max Magnitude0
OMIM606202
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912619(C;C)
Alt rs121912619(C;C)
Reference rs121912619(T;T)
Significance Pathogenic
Disease Oculocutaneous albinism type 4 not provided
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4 not provided
Reversed 1
HGVS NC_000005.9:g.33951733A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004757.3, RCV000178964.1,