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rs606231157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231157(-;-)
Make rs606231157(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34254565
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs606231157
dbSNP (classic)rs606231157
ClinGenrs606231157
ebirs606231157
HLIrs606231157
Exacrs606231157
Gnomadrs606231157
Varsomers606231157
LitVarrs606231157
Maprs606231157
PheGenIrs606231157
Biobankrs606231157
1000 genomesrs606231157
hgdprs606231157
ensemblrs606231157
geneviewrs606231157
scholarrs606231157
googlers606231157
pharmgkbrs606231157
gwascentralrs606231157
openSNPrs606231157
23andMers606231157
SNPshotrs606231157
SNPdbers606231157
MSV3drs606231157
GWAS Ctlgrs606231157
Max Magnitude0
ClinVar
Risk rs606231157(-;-)
Alt rs606231157(-;-)
Reference Rs606231157(A;A)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34546766delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005656.3,