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rs1057516435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516435(-;T)
Make rs1057516435(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34240673
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516435
dbSNP (old)rs1057516435
ClinGenrs1057516435
ebirs1057516435
HLIrs1057516435
Exacrs1057516435
Gnomadrs1057516435
Varsomers1057516435
Maprs1057516435
PheGenIrs1057516435
Biobankrs1057516435
1000 genomesrs1057516435
hgdprs1057516435
ensemblrs1057516435
gopubmedrs1057516435
geneviewrs1057516435
scholarrs1057516435
googlers1057516435
pharmgkbrs1057516435
gwascentralrs1057516435
openSNPrs1057516435
23andMers1057516435
23andMe allrs1057516435
SNPshotrs1057516435
SNPdbers1057516435
MSV3drs1057516435
GWAS Ctlgrs1057516435
Max Magnitude0
ClinVar
Risk rs1057516435(T;T)
Alt rs1057516435(T;T)
Reference Rs1057516435(-;-)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34532875dupA
CLNSRC
CLNACC RCV000412042.1,