rs794729651

Orientation

minus

Stabilized

minus

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

Make rs794729651(-;T)

Make rs794729651(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44876038

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs794729651
dbSNP (classic)	rs794729651
ClinGen	rs794729651
ebi	rs794729651
HLI	rs794729651
Exac	rs794729651
Gnomad	rs794729651
Varsome	rs794729651
LitVar	rs794729651
Map	rs794729651
PheGenI	rs794729651
Biobank	rs794729651
1000 genomes	rs794729651
hgdp	rs794729651
ensembl	rs794729651
geneview	rs794729651
scholar	rs794729651
google	rs794729651
pharmgkb	rs794729651
gwascentral	rs794729651
openSNP	rs794729651
23andMe	rs794729651
SNPshot	rs794729651
SNPdbe	rs794729651
MSV3d	rs794729651
GWAS Ctlg	rs794729651

Max Magnitude

0

ClinVar
Risk	rs794729651(T;T)
Alt	rs794729651(T;T)
Reference	Rs794729651(-;-)
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.42953407dupA
CLNSRC
CLNACC	RCV000185561.2,