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rs431905504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8 Infantile Parkinsonism-dystonia
(A;G) 3 Carrier of an infantile Parkinsonism-dystonia mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome5
Position1411242
GeneSLC6A3
is asnp
is mentioned by
dbSNPrs431905504
dbSNP (classic)rs431905504
ClinGenrs431905504
ebirs431905504
HLIrs431905504
Exacrs431905504
Gnomadrs431905504
Varsomers431905504
LitVarrs431905504
Maprs431905504
PheGenIrs431905504
Biobankrs431905504
1000 genomesrs431905504
hgdprs431905504
ensemblrs431905504
geneviewrs431905504
scholarrs431905504
googlers431905504
pharmgkbrs431905504
gwascentralrs431905504
openSNPrs431905504
23andMers431905504
SNPshotrs431905504
SNPdbers431905504
MSV3drs431905504
GWAS Ctlgrs431905504
Max Magnitude8

c.1269+1G>A

ClinVar
Risk Rs431905504(A;A)
Alt Rs431905504(A;A)
Reference Rs431905504(G;G)
Significance Pathogenic
Disease Infantile Parkinsonism-dystonia not provided
Variation info
Gene SLC6A3
CLNDBN Infantile Parkinsonism-dystonia not provided
Reversed 1
HGVS NC_000005.9:g.1411357C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022531.29, RCV000493130.1,