rs1057518865

Orientation

minus

Stabilized

minus

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

Make rs1057518865(A;A)

Make rs1057518865(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

63957443

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs1057518865
dbSNP (classic)	rs1057518865
ClinGen	rs1057518865
ebi	rs1057518865
HLI	rs1057518865
Exac	rs1057518865
Gnomad	rs1057518865
Varsome	rs1057518865
LitVar	rs1057518865
Map	rs1057518865
PheGenI	rs1057518865
Biobank	rs1057518865
1000 genomes	rs1057518865
hgdp	rs1057518865
ensembl	rs1057518865
geneview	rs1057518865
scholar	rs1057518865
google	rs1057518865
pharmgkb	rs1057518865
gwascentral	rs1057518865
openSNP	rs1057518865
23andMe	rs1057518865
SNPshot	rs1057518865
SNPdbe	rs1057518865
MSV3d	rs1057518865
GWAS Ctlg	rs1057518865

Max Magnitude

0

ClinVar
Risk	rs1057518865(A;A)
Alt	rs1057518865(A;A)
Reference	Rs1057518865(G;G)
Significance	Pathogenic
Disease	Handgrip myotonia Myotonia
Variation	info
Gene	SCN4A
CLNDBN	Handgrip myotonia Myotonia
Reversed	1
HGVS	NC_000017.10:g.62034803C>T
CLNSRC
CLNACC	RCV000414860.1,