rs121908549

Orientation

minus

Stabilized

minus

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

Make rs121908549(A;G)

Make rs121908549(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63945602

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908549
dbSNP (classic)	rs121908549
ClinGen	rs121908549
ebi	rs121908549
HLI	rs121908549
Exac	rs121908549
Gnomad	rs121908549
Varsome	rs121908549
LitVar	rs121908549
Map	rs121908549
PheGenI	rs121908549
Biobank	rs121908549
1000 genomes	rs121908549
hgdp	rs121908549
ensembl	rs121908549
geneview	rs121908549
scholar	rs121908549
google	rs121908549
pharmgkb	rs121908549
gwascentral	rs121908549
openSNP	rs121908549
23andMe	rs121908549
SNPshot	rs121908549
SNPdbe	rs121908549
MSV3d	rs121908549
GWAS Ctlg	rs121908549

Max Magnitude

0

OMIM	603967
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121908549(G;G)
Alt	rs121908549(G;G)
Reference	Rs121908549(A;A)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	SCN4A
CLNDBN	Myotonia congenita, atypical, acetazolamide-responsive
Reversed	1
HGVS	NC_000017.10:g.62022962T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006269.3,