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rs121917882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917882(G;T)
Make rs121917882(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position227702251
GeneSLC19A3
is asnp
is mentioned by
dbSNPrs121917882
dbSNP (classic)rs121917882
ClinGenrs121917882
ebirs121917882
HLIrs121917882
Exacrs121917882
Gnomadrs121917882
Varsomers121917882
LitVarrs121917882
Maprs121917882
PheGenIrs121917882
Biobankrs121917882
1000 genomesrs121917882
hgdprs121917882
ensemblrs121917882
geneviewrs121917882
scholarrs121917882
googlers121917882
pharmgkbrs121917882
gwascentralrs121917882
openSNPrs121917882
23andMers121917882
SNPshotrs121917882
SNPdbers121917882
MSV3drs121917882
GWAS Ctlgrs121917882
Max Magnitude0
ClinVar
Risk rs121917882(A;A) rs121917882(T;T)
Alt rs121917882(A;A) rs121917882(T;T)
Reference Rs121917882(G;G)
Significance Pathogenic
Disease Basal ganglia disease
Variation info
Gene SLC19A3
CLNDBN Basal ganglia disease, biotin-responsive
Reversed 1
HGVS NC_000002.11:g.228566967C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004824.3,