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rs121908428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of an ACCPN neurological mutation
(T;T) 6 ACCPN neurological disorder
ReferenceGRCh38 38.1/141
Chromosome15
Position34243993
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs121908428
ebirs121908428
HLIrs121908428
Exacrs121908428
Varsomers121908428
Maprs121908428
PheGenIrs121908428
hapmaprs121908428
1000 genomesrs121908428
hgdprs121908428
ensemblrs121908428
gopubmedrs121908428
geneviewrs121908428
scholarrs121908428
googlers121908428
pharmgkbrs121908428
gwascentralrs121908428
openSNPrs121908428
23andMers121908428
23andMe allrs121908428
SNP Nexus

SNPshotrs121908428
SNPdbers121908428
MSV3drs121908428
GWAS Ctlgrs121908428
Max Magnitude6

rs121908428, also known as R675X, is a SNP in the SLC12A6 gene.

The risk allele rs121908428(T) accounts for most of the ACCPN mutations seen in French-Canadian populations. Note that 23andMe reports this SNP from the opposite strand as dbSNP, so for their equivalent SNP, i5012575, the risk allele is (A).

OMIM604878
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908428(T;T)
Alt rs121908428(T;T)
Reference rs121908428(C;C)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34536194G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005653.3,