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rs1057516271

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516271(G;T)
Make rs1057516271(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34240681
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516271
dbSNP (old)rs1057516271
ClinGenrs1057516271
ebirs1057516271
HLIrs1057516271
Exacrs1057516271
Gnomadrs1057516271
Varsomers1057516271
Maprs1057516271
PheGenIrs1057516271
Biobankrs1057516271
1000 genomesrs1057516271
hgdprs1057516271
ensemblrs1057516271
gopubmedrs1057516271
geneviewrs1057516271
scholarrs1057516271
googlers1057516271
pharmgkbrs1057516271
gwascentralrs1057516271
openSNPrs1057516271
23andMers1057516271
23andMe allrs1057516271
SNPshotrs1057516271
SNPdbers1057516271
MSV3drs1057516271
GWAS Ctlgrs1057516271
Max Magnitude0
ClinVar
Risk rs1057516271(T;T)
Alt rs1057516271(T;T)
Reference Rs1057516271(G;G)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34532882C>A
CLNSRC
CLNACC RCV000409503.1,