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rs137852958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852958(C;C)
Make rs137852958(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227698757
GeneSLC19A3
is asnp
is mentioned by
dbSNPrs137852958
ebirs137852958
HLIrs137852958
Exacrs137852958
Varsomers137852958
Maprs137852958
PheGenIrs137852958
hapmaprs137852958
1000 genomesrs137852958
hgdprs137852958
ensemblrs137852958
gopubmedrs137852958
geneviewrs137852958
scholarrs137852958
googlers137852958
pharmgkbrs137852958
gwascentralrs137852958
openSNPrs137852958
23andMers137852958
23andMe allrs137852958
SNP Nexus

SNPshotrs137852958
SNPdbers137852958
MSV3drs137852958
GWAS Ctlgrs137852958
Max Magnitude0
OMIM606152
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852958(C;C)
Alt rs137852958(C;C)
Reference rs137852958(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.228563473C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004828.4,