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rs121908429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908429(C;T)
Make rs121908429(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position34257713
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs121908429
dbSNP (classic)rs121908429
ClinGenrs121908429
ebirs121908429
HLIrs121908429
Exacrs121908429
Gnomadrs121908429
Varsomers121908429
LitVarrs121908429
Maprs121908429
PheGenIrs121908429
Biobankrs121908429
1000 genomesrs121908429
hgdprs121908429
ensemblrs121908429
geneviewrs121908429
scholarrs121908429
googlers121908429
pharmgkbrs121908429
gwascentralrs121908429
openSNPrs121908429
23andMers121908429
SNPshotrs121908429
SNPdbers121908429
MSV3drs121908429
GWAS Ctlgrs121908429
Max Magnitude0
OMIM604878
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908429(T;T)
Alt rs121908429(T;T)
Reference Rs121908429(C;C)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34549914G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005657.2,