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rs606231229

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231229(C;T)
Make rs606231229(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34233934
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs606231229
ebirs606231229
HLIrs606231229
Exacrs606231229
Varsomers606231229
Maprs606231229
PheGenIrs606231229
hapmaprs606231229
1000 genomesrs606231229
hgdprs606231229
ensemblrs606231229
gopubmedrs606231229
geneviewrs606231229
scholarrs606231229
googlers606231229
pharmgkbrs606231229
gwascentralrs606231229
openSNPrs606231229
23andMers606231229
23andMe allrs606231229
SNP Nexus

SNPshotrs606231229
SNPdbers606231229
MSV3drs606231229
GWAS Ctlgrs606231229
Max Magnitude0
ClinVar
Risk rs606231229(T;T)
Alt rs606231229(T;T)
Reference rs606231229(C;C)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34526135G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023393.2,