rs121918335

Orientation

minus

Stabilized

minus

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

Make rs121918335(G;T)

Make rs121918335(T;T)

Reference

GRCh37 37.1/132

Chromosome

11

Position

792340

Gene

SLC25A22

is a	snp
is	mentioned by
dbSNP	rs121918335
dbSNP (classic)	rs121918335
ClinGen	rs121918335
ebi	rs121918335
HLI	rs121918335
Exac	rs121918335
Gnomad	rs121918335
Varsome	rs121918335
LitVar	rs121918335
Map	rs121918335
PheGenI	rs121918335
Biobank	rs121918335
1000 genomes	rs121918335
hgdp	rs121918335
ensembl	rs121918335
geneview	rs121918335
scholar	rs121918335
google	rs121918335
pharmgkb	rs121918335
gwascentral	rs121918335
openSNP	rs121918335
23andMe	rs121918335
SNPshot	rs121918335
SNPdbe	rs121918335
MSV3d	rs121918335
GWAS Ctlg	rs121918335

Max Magnitude

0

OMIM	609302
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918335(T;T)
Alt	rs121918335(T;T)
Reference	Rs121918335(G;G)
Significance	Pathogenic
Disease	Early myoclonic encephalopathy
Variation	info
Gene	SLC25A22
CLNDBN	Early myoclonic encephalopathy
Reversed	1
HGVS	NC_000011.9:g.792340C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001848.4,