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rs1057518713

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518713(-;C)
Make rs1057518713(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34336430
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057518713
dbSNP (old)rs1057518713
ClinGenrs1057518713
ebirs1057518713
HLIrs1057518713
Exacrs1057518713
Gnomadrs1057518713
Varsomers1057518713
Maprs1057518713
PheGenIrs1057518713
Biobankrs1057518713
1000 genomesrs1057518713
hgdprs1057518713
ensemblrs1057518713
gopubmedrs1057518713
geneviewrs1057518713
scholarrs1057518713
googlers1057518713
pharmgkbrs1057518713
gwascentralrs1057518713
openSNPrs1057518713
23andMers1057518713
23andMe allrs1057518713
SNPshotrs1057518713
SNPdbers1057518713
MSV3drs1057518713
GWAS Ctlgrs1057518713
Max Magnitude0
ClinVar
Risk rs1057518713(C;C)
Alt rs1057518713(C;C)
Reference Rs1057518713(-;-)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34628632dupG
CLNSRC
CLNACC RCV000415112.1,