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rs121908427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908427(C;T)
Make rs121908427(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position34236719
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs121908427
ebirs121908427
HLIrs121908427
Exacrs121908427
Varsomers121908427
Maprs121908427
PheGenIrs121908427
hapmaprs121908427
1000 genomesrs121908427
hgdprs121908427
ensemblrs121908427
gopubmedrs121908427
geneviewrs121908427
scholarrs121908427
googlers121908427
pharmgkbrs121908427
gwascentralrs121908427
openSNPrs121908427
23andMers121908427
23andMe allrs121908427
SNP Nexus

SNPshotrs121908427
SNPdbers121908427
MSV3drs121908427
GWAS Ctlgrs121908427
Max Magnitude0
OMIM604878
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908427(A,T;A,T)
Alt rs121908427(A,T;A,T)
Reference rs121908427(C;C)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34528920G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005652.3,