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rs137852957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852957(A;G)
Make rs137852957(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227702189
GeneSLC19A3
is asnp
is mentioned by
dbSNPrs137852957
ebirs137852957
HLIrs137852957
Exacrs137852957
Varsomers137852957
Maprs137852957
PheGenIrs137852957
hapmaprs137852957
1000 genomesrs137852957
hgdprs137852957
ensemblrs137852957
gopubmedrs137852957
geneviewrs137852957
scholarrs137852957
googlers137852957
pharmgkbrs137852957
gwascentralrs137852957
openSNPrs137852957
23andMers137852957
23andMe allrs137852957
SNP Nexus

SNPshotrs137852957
SNPdbers137852957
MSV3drs137852957
GWAS Ctlgrs137852957
Max Magnitude0
OMIM606152
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852957(G;G)
Alt rs137852957(G;G)
Reference rs137852957(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.228566905T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004827.4,