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rs515726217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs515726217(-;-)
Make rs515726217(-;A)
Make rs515726217(A;A)
ReferenceGRCh38 38.1/142
Chromosome15
Position34243984
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs515726217
ebirs515726217
HLIrs515726217
Exacrs515726217
Varsomers515726217
Maprs515726217
PheGenIrs515726217
hapmaprs515726217
1000 genomesrs515726217
hgdprs515726217
ensemblrs515726217
gopubmedrs515726217
geneviewrs515726217
scholarrs515726217
googlers515726217
pharmgkbrs515726217
gwascentralrs515726217
openSNPrs515726217
23andMers515726217
23andMe allrs515726217
SNP Nexus

SNPshotrs515726217
SNPdbers515726217
MSV3drs515726217
GWAS Ctlgrs515726217
Max Magnitude0
ClinVar
Risk rs515726217(A;A)
Alt rs515726217(A;A)
Reference rs515726217(;)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34536185dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000123393.3,