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rs515726216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs515726216(AG;C)
Make rs515726216(C;C)
ReferenceGRCh38 38.1/142
Chromosome15
Position34250637
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs515726216
ebirs515726216
HLIrs515726216
Exacrs515726216
Varsomers515726216
Maprs515726216
PheGenIrs515726216
hapmaprs515726216
1000 genomesrs515726216
hgdprs515726216
ensemblrs515726216
gopubmedrs515726216
geneviewrs515726216
scholarrs515726216
googlers515726216
pharmgkbrs515726216
gwascentralrs515726216
openSNPrs515726216
23andMers515726216
23andMe allrs515726216
SNP Nexus

SNPshotrs515726216
SNPdbers515726216
MSV3drs515726216
GWAS Ctlgrs515726216
Max Magnitude0
ClinVar
Risk rs515726216(C;C)
Alt rs515726216(C;C)
Reference rs515726216(AG;AG)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34542838_34542839delAGinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000123392.4,