rs879253725

Orientation

minus

Stabilized

minus

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

Make rs879253725(-;-)

Make rs879253725(-;GT)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

44860005

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs879253725
dbSNP (classic)	rs879253725
ClinGen	rs879253725
ebi	rs879253725
HLI	rs879253725
Exac	rs879253725
Gnomad	rs879253725
Varsome	rs879253725
LitVar	rs879253725
Map	rs879253725
PheGenI	rs879253725
Biobank	rs879253725
1000 genomes	rs879253725
hgdp	rs879253725
ensembl	rs879253725
geneview	rs879253725
scholar	rs879253725
google	rs879253725
pharmgkb	rs879253725
gwascentral	rs879253725
openSNP	rs879253725
23andMe	rs879253725
SNPshot	rs879253725
SNPdbe	rs879253725
MSV3d	rs879253725
GWAS Ctlg	rs879253725

Max Magnitude

0

ClinVar
Risk	rs879253725(-;-)
Alt	rs879253725(-;-)
Reference	Rs879253725(GT;GT)
Significance	Pathogenic
Disease	Growth and mental retardation
Variation	info
Gene	EFTUD2
CLNDBN	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Reversed	1
HGVS	NC_000017.10:g.42937373_42937374delAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023355.4,