Have questions? Visit https://www.reddit.com/r/SNPedia

rs713993048

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs713993048(A;A)
Make rs713993048(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position227702299
GeneSLC19A3
is asnp
is mentioned by
dbSNPrs713993048
ebirs713993048
HLIrs713993048
Exacrs713993048
Varsomers713993048
Maprs713993048
PheGenIrs713993048
hapmaprs713993048
1000 genomesrs713993048
hgdprs713993048
ensemblrs713993048
gopubmedrs713993048
geneviewrs713993048
scholarrs713993048
googlers713993048
pharmgkbrs713993048
gwascentralrs713993048
openSNPrs713993048
23andMers713993048
23andMe allrs713993048
SNP Nexus

SNPshotrs713993048
SNPdbers713993048
MSV3drs713993048
GWAS Ctlgrs713993048
Max Magnitude0
ClinVar
Risk rs713993048(A;A)
Alt rs713993048(A;A)
Reference rs713993048(C;C)
Significance Pathogenic
Disease Basal ganglia disease
Variation info
Gene SLC19A3
CLNDBN Basal ganglia disease, biotin-responsive
Reversed 1
HGVS NC_000002.11:g.228567015G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149551.5,