rs104893950

Orientation

minus

Stabilized

minus

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

Make rs104893950(C;T)

Make rs104893950(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

145627691

Gene

EPM2A

is a	snp
is	mentioned by
dbSNP	rs104893950
dbSNP (classic)	rs104893950
ClinGen	rs104893950
ebi	rs104893950
HLI	rs104893950
Exac	rs104893950
Gnomad	rs104893950
Varsome	rs104893950
LitVar	rs104893950
Map	rs104893950
PheGenI	rs104893950
Biobank	rs104893950
1000 genomes	rs104893950
hgdp	rs104893950
ensembl	rs104893950
geneview	rs104893950
scholar	rs104893950
google	rs104893950
pharmgkb	rs104893950
gwascentral	rs104893950
openSNP	rs104893950
23andMe	rs104893950
SNPshot	rs104893950
SNPdbe	rs104893950
MSV3d	rs104893950
GWAS Ctlg	rs104893950

Max Magnitude

0

OMIM	607566
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104893950(T;T)
Alt	rs104893950(T;T)
Reference	Rs104893950(C;C)
Significance	Pathogenic
Disease	Lafora disease not provided
Variation	info
Gene	EPM2A
CLNDBN	Lafora disease not provided
Reversed	1
HGVS	NC_000006.11:g.145948827G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003244.6, RCV000187394.2,