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rs515726215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 ACCPN neurological disorder
(-;C) 3 carrier of an ACCPN neurological mutation
(C;C) 0 common/normal
ReferenceGRCh38 38.1/142
Chromosome15
Position34240661
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs515726215
ebirs515726215
HLIrs515726215
Exacrs515726215
Varsomers515726215
Maprs515726215
PheGenIrs515726215
hapmaprs515726215
1000 genomesrs515726215
hgdprs515726215
ensemblrs515726215
gopubmedrs515726215
geneviewrs515726215
scholarrs515726215
googlers515726215
pharmgkbrs515726215
gwascentralrs515726215
openSNPrs515726215
23andMers515726215
23andMe allrs515726215
SNP Nexus

SNPshotrs515726215
SNPdbers515726215
MSV3drs515726215
GWAS Ctlgrs515726215
Max Magnitude6
Agenesis of the Corpus Callosum with Peripheral Neuropathy
ClinVar
Risk rs515726215(;)
Alt rs515726215(;)
Reference rs515726215(C;C)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34532862delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005650.4,