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rs775111365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs775111365(-;AC)
Make rs775111365(AC;AC)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34257759
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs775111365
dbSNP (classic)rs775111365
ClinGenrs775111365
ebirs775111365
HLIrs775111365
Exacrs775111365
Gnomadrs775111365
Varsomers775111365
LitVarrs775111365
Maprs775111365
PheGenIrs775111365
Biobankrs775111365
1000 genomesrs775111365
hgdprs775111365
ensemblrs775111365
geneviewrs775111365
scholarrs775111365
googlers775111365
pharmgkbrs775111365
gwascentralrs775111365
openSNPrs775111365
23andMers775111365
SNPshotrs775111365
SNPdbers775111365
MSV3drs775111365
GWAS Ctlgrs775111365
Max Magnitude0
ClinVar
Risk rs775111365(AC;AC)
Alt rs775111365(AC;AC)
Reference Rs775111365(-;-)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34549961_34549962dupAC
CLNSRC
CLNACC RCV000169349.1,