rs104893955

Orientation

minus

Stabilized

minus

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

Make rs104893955(G;G)

Make rs104893955(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

145735405

Gene	EPM2A, LOC100507557

is a	snp
is	mentioned by
dbSNP	rs104893955
dbSNP (classic)	rs104893955
ClinGen	rs104893955
ebi	rs104893955
HLI	rs104893955
Exac	rs104893955
Gnomad	rs104893955
Varsome	rs104893955
LitVar	rs104893955
Map	rs104893955
PheGenI	rs104893955
Biobank	rs104893955
1000 genomes	rs104893955
hgdp	rs104893955
ensembl	rs104893955
geneview	rs104893955
scholar	rs104893955
google	rs104893955
pharmgkb	rs104893955
gwascentral	rs104893955
openSNP	rs104893955
23andMe	rs104893955
SNPshot	rs104893955
SNPdbe	rs104893955
MSV3d	rs104893955
GWAS Ctlg	rs104893955

Max Magnitude

0

OMIM	607566
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104893955(G;G)
Alt	rs104893955(G;G)
Reference	Rs104893955(T;T)
Significance	Pathogenic
Disease	Lafora disease not provided
Variation	info
Gene	EPM2A LOC100507557
CLNDBN	Lafora disease not provided
Reversed	1
HGVS	NC_000006.11:g.146056541A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003253.6, RCV000494425.1,