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rs1057516378

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516378(C;C)
Make rs1057516378(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34237551
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516378
dbSNP (old)rs1057516378
ClinGenrs1057516378
ebirs1057516378
HLIrs1057516378
Exacrs1057516378
Gnomadrs1057516378
Varsomers1057516378
Maprs1057516378
PheGenIrs1057516378
Biobankrs1057516378
1000 genomesrs1057516378
hgdprs1057516378
ensemblrs1057516378
gopubmedrs1057516378
geneviewrs1057516378
scholarrs1057516378
googlers1057516378
pharmgkbrs1057516378
gwascentralrs1057516378
openSNPrs1057516378
23andMers1057516378
23andMe allrs1057516378
SNPshotrs1057516378
SNPdbers1057516378
MSV3drs1057516378
GWAS Ctlgrs1057516378
Max Magnitude0
ClinVar
Risk rs1057516378(C;C) rs1057516378(T;T)
Alt rs1057516378(C;C) rs1057516378(T;T)
Reference Rs1057516378(G;G)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34529752C>A; NC_000015.9:g.34529752C>G
CLNSRC
CLNACC RCV000410487.1, RCV000409353.1,