rs879253728

Orientation

minus

Stabilized

minus

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

Make rs879253728(-;-)

Make rs879253728(-;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

44851709

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs879253728
dbSNP (classic)	rs879253728
ClinGen	rs879253728
ebi	rs879253728
HLI	rs879253728
Exac	rs879253728
Gnomad	rs879253728
Varsome	rs879253728
LitVar	rs879253728
Map	rs879253728
PheGenI	rs879253728
Biobank	rs879253728
1000 genomes	rs879253728
hgdp	rs879253728
ensembl	rs879253728
geneview	rs879253728
scholar	rs879253728
google	rs879253728
pharmgkb	rs879253728
gwascentral	rs879253728
openSNP	rs879253728
23andMe	rs879253728
SNPshot	rs879253728
SNPdbe	rs879253728
MSV3d	rs879253728
GWAS Ctlg	rs879253728

Max Magnitude

0

ClinVar
Risk	rs879253728(-;-)
Alt	rs879253728(-;-)
Reference	Rs879253728(G;G)
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.42929077delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033146.3,