rs121908561

Orientation

minus

Stabilized

minus

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

Make rs121908561(A;G)

Make rs121908561(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63972197

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908561
dbSNP (classic)	rs121908561
ClinGen	rs121908561
ebi	rs121908561
HLI	rs121908561
Exac	rs121908561
Gnomad	rs121908561
Varsome	rs121908561
LitVar	rs121908561
Map	rs121908561
PheGenI	rs121908561
Biobank	rs121908561
1000 genomes	rs121908561
hgdp	rs121908561
ensembl	rs121908561
geneview	rs121908561
scholar	rs121908561
google	rs121908561
pharmgkb	rs121908561
gwascentral	rs121908561
openSNP	rs121908561
23andMe	rs121908561
SNPshot	rs121908561
SNPdbe	rs121908561
MSV3d	rs121908561
GWAS Ctlg	rs121908561

Max Magnitude

0

OMIM	603967
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121908561(G;G)
Alt	rs121908561(G;G)
Reference	Rs121908561(A;A)
Significance	Pathogenic
Disease	Paramyotonia congenita of von Eulenburg
Variation	info
Gene	SCN4A
CLNDBN	Paramyotonia congenita of von Eulenburg
Reversed	1
HGVS	NC_000017.10:g.62049557T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006287.5,