rs879255631

Orientation

plus

Stabilized

plus

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

Make rs879255631(G;T)

Make rs879255631(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

4

Position

44695724

Gene

GUF1

is a	snp
is	mentioned by
dbSNP	rs879255631
dbSNP (classic)	rs879255631
ClinGen	rs879255631
ebi	rs879255631
HLI	rs879255631
Exac	rs879255631
Gnomad	rs879255631
Varsome	rs879255631
LitVar	rs879255631
Map	rs879255631
PheGenI	rs879255631
Biobank	rs879255631
1000 genomes	rs879255631
hgdp	rs879255631
ensembl	rs879255631
geneview	rs879255631
scholar	rs879255631
google	rs879255631
pharmgkb	rs879255631
gwascentral	rs879255631
openSNP	rs879255631
23andMe	rs879255631
SNPshot	rs879255631
SNPdbe	rs879255631
MSV3d	rs879255631
GWAS Ctlg	rs879255631

Max Magnitude

0

ClinVar
Risk	rs879255631(T;T)
Alt	rs879255631(T;T)
Reference	Rs879255631(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	GUF1 GNPDA2
CLNDBN	Epileptic encephalopathy, early infantile, 40
Reversed	0
HGVS	NC_000004.11:g.44697741G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239484.1,