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rs1057516456

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516456(C;T)
Make rs1057516456(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34257677
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516456
dbSNP (old)rs1057516456
ClinGenrs1057516456
ebirs1057516456
HLIrs1057516456
Exacrs1057516456
Gnomadrs1057516456
Varsomers1057516456
Maprs1057516456
PheGenIrs1057516456
Biobankrs1057516456
1000 genomesrs1057516456
hgdprs1057516456
ensemblrs1057516456
gopubmedrs1057516456
geneviewrs1057516456
scholarrs1057516456
googlers1057516456
pharmgkbrs1057516456
gwascentralrs1057516456
openSNPrs1057516456
23andMers1057516456
23andMe allrs1057516456
SNPshotrs1057516456
SNPdbers1057516456
MSV3drs1057516456
GWAS Ctlgrs1057516456
Max Magnitude0
ClinVar
Risk rs1057516456(T;T)
Alt rs1057516456(T;T)
Reference Rs1057516456(C;C)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34549878G>A
CLNSRC
CLNACC RCV000409680.1,