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rs199747285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199747285(A;A)
Make rs199747285(A;C)
ReferenceGRCh38 38.1/142
Chromosome15
Position34260958
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs199747285
dbSNP (classic)rs199747285
ClinGenrs199747285
ebirs199747285
HLIrs199747285
Exacrs199747285
Gnomadrs199747285
Varsomers199747285
LitVarrs199747285
Maprs199747285
PheGenIrs199747285
Biobankrs199747285
1000 genomesrs199747285
hgdprs199747285
ensemblrs199747285
geneviewrs199747285
scholarrs199747285
googlers199747285
pharmgkbrs199747285
gwascentralrs199747285
openSNPrs199747285
23andMers199747285
SNPshotrs199747285
SNPdbers199747285
MSV3drs199747285
GWAS Ctlgrs199747285
Max Magnitude0
ClinVar
Risk rs199747285(A;A)
Alt rs199747285(A;A)
Reference Rs199747285(C;C)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34553159C>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000147487.2,