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rs1057516262

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516262(C;T)
Make rs1057516262(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34237544
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516262
dbSNP (old)rs1057516262
ClinGenrs1057516262
ebirs1057516262
HLIrs1057516262
Exacrs1057516262
Gnomadrs1057516262
Varsomers1057516262
Maprs1057516262
PheGenIrs1057516262
Biobankrs1057516262
1000 genomesrs1057516262
hgdprs1057516262
ensemblrs1057516262
gopubmedrs1057516262
geneviewrs1057516262
scholarrs1057516262
googlers1057516262
pharmgkbrs1057516262
gwascentralrs1057516262
openSNPrs1057516262
23andMers1057516262
23andMe allrs1057516262
SNPshotrs1057516262
SNPdbers1057516262
MSV3drs1057516262
GWAS Ctlgrs1057516262
Max Magnitude0
ClinVar
Risk rs1057516262(T;T)
Alt rs1057516262(T;T)
Reference Rs1057516262(C;C)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34529745G>A
CLNSRC
CLNACC RCV000409483.1,