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rs1057517289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517289(-;A)
Make rs1057517289(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34236021
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057517289
dbSNP (old)rs1057517289
ClinGenrs1057517289
ebirs1057517289
HLIrs1057517289
Exacrs1057517289
Gnomadrs1057517289
Varsomers1057517289
LitVarrs1057517289
Maprs1057517289
PheGenIrs1057517289
Biobankrs1057517289
1000 genomesrs1057517289
hgdprs1057517289
ensemblrs1057517289
gopubmedrs1057517289
geneviewrs1057517289
scholarrs1057517289
googlers1057517289
pharmgkbrs1057517289
gwascentralrs1057517289
openSNPrs1057517289
23andMers1057517289
23andMe allrs1057517289
SNPshotrs1057517289
SNPdbers1057517289
MSV3drs1057517289
GWAS Ctlgrs1057517289
Max Magnitude0
ClinVar
Risk rs1057517289(A;A)
Alt rs1057517289(A;A)
Reference Rs1057517289(-;-)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34528223dupT
CLNSRC
CLNACC RCV000408984.1,