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rs121917884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917884(A;G)
Make rs121917884(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227688216
GeneSLC19A3
is asnp
is mentioned by
dbSNPrs121917884
ebirs121917884
HLIrs121917884
Exacrs121917884
Varsomers121917884
Maprs121917884
PheGenIrs121917884
hapmaprs121917884
1000 genomesrs121917884
hgdprs121917884
ensemblrs121917884
gopubmedrs121917884
geneviewrs121917884
scholarrs121917884
googlers121917884
pharmgkbrs121917884
gwascentralrs121917884
openSNPrs121917884
23andMers121917884
23andMe allrs121917884
SNP Nexus

SNPshotrs121917884
SNPdbers121917884
MSV3drs121917884
GWAS Ctlgrs121917884
Max Magnitude0
ClinVar
Risk rs121917884(G;G)
Alt rs121917884(G;G)
Reference rs121917884(A;A)
Significance Pathogenic
Disease Basal ganglia disease
Variation info
Gene SLC19A3
CLNDBN Basal ganglia disease, biotin-responsive
Reversed 1
HGVS NC_000002.11:g.228552932T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004825.2,