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rs267607069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an infantile Parkinsonism-dystonia mutation
(T;T) 8 Infantile Parkinsonism-dystonia
ReferenceGRCh38 38.1/141
Chromosome5
Position1411328
GeneSLC6A3
is asnp
is mentioned by
dbSNPrs267607069
ClinGenrs267607069
ebirs267607069
HLIrs267607069
Exacrs267607069
Varsomers267607069
Maprs267607069
PheGenIrs267607069
hapmaprs267607069
1000 genomesrs267607069
hgdprs267607069
ensemblrs267607069
gopubmedrs267607069
geneviewrs267607069
scholarrs267607069
googlers267607069
pharmgkbrs267607069
gwascentralrs267607069
openSNPrs267607069
23andMers267607069
23andMe allrs267607069
SNP Nexus

SNPshotrs267607069
SNPdbers267607069
MSV3drs267607069
GWAS Ctlgrs267607069
Max Magnitude8

c.1184C>T (p.Pro395Leu)

ClinVar
Risk Rs267607069(T;T)
Alt Rs267607069(T;T)
Reference Rs267607069(C;C)
Significance Pathogenic
Disease Infantile Parkinsonism-dystonia
Variation info
Gene SLC6A3
CLNDBN Infantile Parkinsonism-dystonia
Reversed 1
HGVS NC_000005.9:g.1411443G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018250.27,