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rs431905514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905514(A;A)
Make rs431905514(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position1416097
GeneSLC6A3
is asnp
is mentioned by
dbSNPrs431905514
ebirs431905514
HLIrs431905514
Exacrs431905514
Varsomers431905514
Maprs431905514
PheGenIrs431905514
hapmaprs431905514
1000 genomesrs431905514
hgdprs431905514
ensemblrs431905514
gopubmedrs431905514
geneviewrs431905514
scholarrs431905514
googlers431905514
pharmgkbrs431905514
gwascentralrs431905514
openSNPrs431905514
23andMers431905514
23andMe allrs431905514
SNP Nexus

SNPshotrs431905514
SNPdbers431905514
MSV3drs431905514
GWAS Ctlgrs431905514
Max Magnitude0
ClinVar
Risk rs431905514(A;A)
Alt rs431905514(A;A)
Reference rs431905514(G;G)
Significance Pathogenic
Disease Infantile Parkinsonism-dystonia
Variation info
Gene SLC6A3
CLNDBN Infantile Parkinsonism-dystonia
Reversed 1
HGVS NC_000005.9:g.1416212C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083262.3,