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rs515726218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAGGGAA;AGAGGGAA) 0 common in clinvar
Make rs515726218(-;-)
Make rs515726218(-;AGAGGGAA)
ReferenceGRCh38 38.1/142
Chromosome15
Position34250906
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs515726218
ebirs515726218
HLIrs515726218
Exacrs515726218
Varsomers515726218
Maprs515726218
PheGenIrs515726218
hapmaprs515726218
1000 genomesrs515726218
hgdprs515726218
ensemblrs515726218
gopubmedrs515726218
geneviewrs515726218
scholarrs515726218
googlers515726218
pharmgkbrs515726218
gwascentralrs515726218
openSNPrs515726218
23andMers515726218
23andMe allrs515726218
SNP Nexus

SNPshotrs515726218
SNPdbers515726218
MSV3drs515726218
GWAS Ctlgrs515726218
Max Magnitude0
ClinVar
Risk rs515726218(;)
Alt rs515726218(;)
Reference rs515726218(AGAGGGAA;AGAGGGAA)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34543107_34543114delAGAGGGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000123394.3,