Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912621

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912621(A;A)
Make rs121912621(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position33982329
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs121912621
ebirs121912621
HLIrs121912621
Exacrs121912621
Varsomers121912621
Maprs121912621
PheGenIrs121912621
hapmaprs121912621
1000 genomesrs121912621
hgdprs121912621
ensemblrs121912621
gopubmedrs121912621
geneviewrs121912621
scholarrs121912621
googlers121912621
pharmgkbrs121912621
gwascentralrs121912621
openSNPrs121912621
23andMers121912621
23andMe allrs121912621
SNP Nexus

SNPshotrs121912621
SNPdbers121912621
MSV3drs121912621
GWAS Ctlgrs121912621
Max Magnitude0
OMIM606202
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912621(A;A)
Alt rs121912621(A;A)
Reference rs121912621(G;G)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 1
HGVS NC_000005.9:g.33982434C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004761.3,