rs797045551

Orientation

minus

Stabilized

minus

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

Make rs797045551(-;-)

Make rs797045551(-;AT)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44863770

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs797045551
dbSNP (classic)	rs797045551
ClinGen	rs797045551
ebi	rs797045551
HLI	rs797045551
Exac	rs797045551
Gnomad	rs797045551
Varsome	rs797045551
LitVar	rs797045551
Map	rs797045551
PheGenI	rs797045551
Biobank	rs797045551
1000 genomes	rs797045551
hgdp	rs797045551
ensembl	rs797045551
geneview	rs797045551
scholar	rs797045551
google	rs797045551
pharmgkb	rs797045551
gwascentral	rs797045551
openSNP	rs797045551
23andMe	rs797045551
SNPshot	rs797045551
SNPdbe	rs797045551
MSV3d	rs797045551
GWAS Ctlg	rs797045551

Max Magnitude

0

ClinVar
Risk	rs797045551(-;-)
Alt	rs797045551(-;-)
Reference	Rs797045551(AT;AT)
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.42941138_42941139delAT
CLNSRC
CLNACC	RCV000192370.1,