rs587776703

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar

Make rs587776703(-;-)

Make rs587776703(-;CT)

Reference

GRCh38 38.1/142

Chromosome

12

Position

51806642

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs587776703
dbSNP (classic)	rs587776703
ClinGen	rs587776703
ebi	rs587776703
HLI	rs587776703
Exac	rs587776703
Gnomad	rs587776703
Varsome	rs587776703
LitVar	rs587776703
Map	rs587776703
PheGenI	rs587776703
Biobank	rs587776703
1000 genomes	rs587776703
hgdp	rs587776703
ensembl	rs587776703
geneview	rs587776703
scholar	rs587776703
google	rs587776703
pharmgkb	rs587776703
gwascentral	rs587776703
openSNP	rs587776703
23andMe	rs587776703
SNPshot	rs587776703
SNPdbe	rs587776703
MSV3d	rs587776703
GWAS Ctlg	rs587776703

Max Magnitude

0

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	RCV000009467.8,