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rs1057517109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517109(-;C)
Make rs1057517109(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34257781
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057517109
dbSNP (classic)rs1057517109
ClinGenrs1057517109
ebirs1057517109
HLIrs1057517109
Exacrs1057517109
Gnomadrs1057517109
Varsomers1057517109
LitVarrs1057517109
Maprs1057517109
PheGenIrs1057517109
Biobankrs1057517109
1000 genomesrs1057517109
hgdprs1057517109
ensemblrs1057517109
geneviewrs1057517109
scholarrs1057517109
googlers1057517109
pharmgkbrs1057517109
gwascentralrs1057517109
openSNPrs1057517109
23andMers1057517109
SNPshotrs1057517109
SNPdbers1057517109
MSV3drs1057517109
GWAS Ctlgrs1057517109
Max Magnitude0
ClinVar
Risk rs1057517109(C;C)
Alt rs1057517109(C;C)
Reference Rs1057517109(-;-)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34549983dupG
CLNSRC
CLNACC RCV000411830.1,