rs121908552

Orientation

minus

Stabilized

minus

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

Make rs121908552(A;A)

Make rs121908552(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63964587

Gene	LOC105371858, SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908552
dbSNP (classic)	rs121908552
ClinGen	rs121908552
ebi	rs121908552
HLI	rs121908552
Exac	rs121908552
Gnomad	rs121908552
Varsome	rs121908552
LitVar	rs121908552
Map	rs121908552
PheGenI	rs121908552
Biobank	rs121908552
1000 genomes	rs121908552
hgdp	rs121908552
ensembl	rs121908552
geneview	rs121908552
scholar	rs121908552
google	rs121908552
pharmgkb	rs121908552
gwascentral	rs121908552
openSNP	rs121908552
23andMe	rs121908552
SNPshot	rs121908552
SNPdbe	rs121908552
MSV3d	rs121908552
GWAS Ctlg	rs121908552

Max Magnitude

0

OMIM	603967
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121908552(A;A) rs121908552(T;T)
Alt	rs121908552(A;A) rs121908552(T;T)
Reference	Rs121908552(G;G)
Significance	Pathogenic
Disease	Muscle weakness Myotonia Myotonia congenita Potassium aggravated myotonia not provided
Variation	info
Gene	SCN4A
CLNDBN	Muscle weakness Myotonia Myotonia congenita Potassium aggravated myotonia not provided
Reversed	1
HGVS	NC_000017.10:g.62041947C>A; NC_000017.10:g.62041947C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000414792.1, RCV000415234.1, RCV000006273.3, RCV000255075.1,