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rs1057516969

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516969(A;A)
Make rs1057516969(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34236014
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516969
dbSNP (old)rs1057516969
ClinGenrs1057516969
ebirs1057516969
HLIrs1057516969
Exacrs1057516969
Gnomadrs1057516969
Varsomers1057516969
Maprs1057516969
PheGenIrs1057516969
Biobankrs1057516969
1000 genomesrs1057516969
hgdprs1057516969
ensemblrs1057516969
gopubmedrs1057516969
geneviewrs1057516969
scholarrs1057516969
googlers1057516969
pharmgkbrs1057516969
gwascentralrs1057516969
openSNPrs1057516969
23andMers1057516969
23andMe allrs1057516969
SNPshotrs1057516969
SNPdbers1057516969
MSV3drs1057516969
GWAS Ctlgrs1057516969
Max Magnitude0
ClinVar
Risk rs1057516969(A;A)
Alt rs1057516969(A;A)
Reference Rs1057516969(G;G)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34528215C>T
CLNSRC
CLNACC RCV000412065.1,