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rs1057516337

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516337(A;G)
Make rs1057516337(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34239162
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516337
dbSNP (classic)rs1057516337
ClinGenrs1057516337
ebirs1057516337
HLIrs1057516337
Exacrs1057516337
Gnomadrs1057516337
Varsomers1057516337
LitVarrs1057516337
Maprs1057516337
PheGenIrs1057516337
Biobankrs1057516337
1000 genomesrs1057516337
hgdprs1057516337
ensemblrs1057516337
geneviewrs1057516337
scholarrs1057516337
googlers1057516337
pharmgkbrs1057516337
gwascentralrs1057516337
openSNPrs1057516337
23andMers1057516337
23andMe allrs1057516337
SNPshotrs1057516337
SNPdbers1057516337
MSV3drs1057516337
GWAS Ctlgrs1057516337
Max Magnitude0
ClinVar
Risk rs1057516337(G;G)
Alt rs1057516337(G;G)
Reference Rs1057516337(A;A)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34531363T>C
CLNSRC
CLNACC RCV000410684.1,