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rs587776703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587776703(-;-)
Make rs587776703(-;CT)
ReferenceGRCh38 38.1/142
Chromosome12
Position51806642
GeneSCN8A
is asnp
is mentioned by
dbSNPrs587776703
ebirs587776703
HLIrs587776703
Exacrs587776703
Varsomers587776703
Maprs587776703
PheGenIrs587776703
hapmaprs587776703
1000 genomesrs587776703
hgdprs587776703
ensemblrs587776703
gopubmedrs587776703
geneviewrs587776703
scholarrs587776703
googlers587776703
pharmgkbrs587776703
gwascentralrs587776703
openSNPrs587776703
23andMers587776703
23andMe allrs587776703
SNP Nexus

SNPshotrs587776703
SNPdbers587776703
MSV3drs587776703
GWAS Ctlgrs587776703
Max Magnitude0
ClinVar
Risk rs587776703(;)
Alt rs587776703(;)
Reference rs587776703(CT;CT)
Significance Pathogenic
Disease Cognitive impairment with or without cerebellar ataxia
Variation info
Gene SCN8A
CLNDBN Cognitive impairment with or without cerebellar ataxia
Reversed 0
HGVS NC_000012.11:g.52200426_52200427delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009467.7,