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rs797045970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045970(G;G)
Make rs797045970(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position33964001
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs797045970
dbSNP (classic)rs797045970
ClinGenrs797045970
ebirs797045970
HLIrs797045970
Exacrs797045970
Gnomadrs797045970
Varsomers797045970
LitVarrs797045970
Maprs797045970
PheGenIrs797045970
Biobankrs797045970
1000 genomesrs797045970
hgdprs797045970
ensemblrs797045970
geneviewrs797045970
scholarrs797045970
googlers797045970
pharmgkbrs797045970
gwascentralrs797045970
openSNPrs797045970
23andMers797045970
SNPshotrs797045970
SNPdbers797045970
MSV3drs797045970
GWAS Ctlgrs797045970
Max Magnitude0
ClinVar
Risk rs797045970(G;G)
Alt rs797045970(G;G)
Reference Rs797045970(T;T)
Significance Probable-Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 1
HGVS NC_000005.9:g.33964106A>C
CLNSRC
CLNACC RCV000193320.1,