rs121908546

Orientation

minus

Stabilized

minus

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

Make rs121908546(C;T)

Make rs121908546(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63951866

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908546
dbSNP (classic)	rs121908546
ClinGen	rs121908546
ebi	rs121908546
HLI	rs121908546
Exac	rs121908546
Gnomad	rs121908546
Varsome	rs121908546
LitVar	rs121908546
Map	rs121908546
PheGenI	rs121908546
Biobank	rs121908546
1000 genomes	rs121908546
hgdp	rs121908546
ensembl	rs121908546
geneview	rs121908546
scholar	rs121908546
google	rs121908546
pharmgkb	rs121908546
gwascentral	rs121908546
openSNP	rs121908546
23andMe	rs121908546
SNPshot	rs121908546
SNPdbe	rs121908546
MSV3d	rs121908546
GWAS Ctlg	rs121908546

Max Magnitude

0

OMIM	603967
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908546(T;T)
Alt	rs121908546(T;T)
Reference	Rs121908546(C;C)
Significance	Pathogenic
Disease	Paramyotonia congenita/myotonia congenita Potassium aggravated myotonia not provided
Variation	info
Gene	SCN4A
CLNDBN	Paramyotonia congenita/myotonia congenita Potassium aggravated myotonia not provided
Reversed	1
HGVS	NC_000017.10:g.62029226G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006261.4, RCV000006262.4, RCV000489309.1,