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rs116887602

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116887602(A;A)
Make rs116887602(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position33963745
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs116887602
dbSNP (old)rs116887602
ClinGenrs116887602
ebirs116887602
HLIrs116887602
Exacrs116887602
Gnomadrs116887602
Varsomers116887602
Maprs116887602
PheGenIrs116887602
Biobankrs116887602
1000 genomesrs116887602
hgdprs116887602
ensemblrs116887602
gopubmedrs116887602
geneviewrs116887602
scholarrs116887602
googlers116887602
pharmgkbrs116887602
gwascentralrs116887602
openSNPrs116887602
23andMers116887602
23andMe allrs116887602
SNPshotrs116887602
SNPdbers116887602
MSV3drs116887602
GWAS Ctlgrs116887602
Max Magnitude0
ClinVar
Risk rs116887602(A;A) rs116887602(C;C) rs116887602(T;T)
Alt rs116887602(A;A) rs116887602(C;C) rs116887602(T;T)
Reference Rs116887602(G;G)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 0
HGVS NC_000005.9:g.33963850G>C
CLNSRC
CLNACC RCV000349343.1,