rs1057518487

Orientation

plus

Stabilized

plus

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

Make rs1057518487(C;C)

Make rs1057518487(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51688775

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs1057518487
dbSNP (classic)	rs1057518487
ClinGen	rs1057518487
ebi	rs1057518487
HLI	rs1057518487
Exac	rs1057518487
Gnomad	rs1057518487
Varsome	rs1057518487
LitVar	rs1057518487
Map	rs1057518487
PheGenI	rs1057518487
Biobank	rs1057518487
1000 genomes	rs1057518487
hgdp	rs1057518487
ensembl	rs1057518487
geneview	rs1057518487
scholar	rs1057518487
google	rs1057518487
pharmgkb	rs1057518487
gwascentral	rs1057518487
openSNP	rs1057518487
23andMe	rs1057518487
SNPshot	rs1057518487
SNPdbe	rs1057518487
MSV3d	rs1057518487
GWAS Ctlg	rs1057518487

Max Magnitude

0

ClinVar
Risk	rs1057518487(C;C)
Alt	rs1057518487(C;C)
Reference	Rs1057518487(T;T)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	SCN8A
CLNDBN	not provided
Reversed	0
HGVS	NC_000012.11:g.52082559T>C
CLNSRC
CLNACC	RCV000413127.1,