rs121908491

Orientation

minus

Stabilized

minus

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

Make rs121908491(G;G)

Make rs121908491(G;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94618833

Gene	CASD1, SGCE

is a	snp
is	mentioned by
dbSNP	rs121908491
dbSNP (classic)	rs121908491
ClinGen	rs121908491
ebi	rs121908491
HLI	rs121908491
Exac	rs121908491
Gnomad	rs121908491
Varsome	rs121908491
LitVar	rs121908491
Map	rs121908491
PheGenI	rs121908491
Biobank	rs121908491
1000 genomes	rs121908491
hgdp	rs121908491
ensembl	rs121908491
geneview	rs121908491
scholar	rs121908491
google	rs121908491
pharmgkb	rs121908491
gwascentral	rs121908491
openSNP	rs121908491
23andMe	rs121908491
SNPshot	rs121908491
SNPdbe	rs121908491
MSV3d	rs121908491
GWAS Ctlg	rs121908491

Max Magnitude

0

OMIM	604149
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908491(G;G)
Alt	rs121908491(G;G)
Reference	Rs121908491(T;T)
Significance	Pathogenic
Disease	Myoclonic dystonia
Variation	info
Gene	SGCE
CLNDBN	Myoclonic dystonia
Reversed	1
HGVS	NC_000007.13:g.94248145A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006129.4,