rs797045550

Orientation

minus

Stabilized

minus

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

Make rs797045550(C;C)

Make rs797045550(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44867806

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs797045550
dbSNP (classic)	rs797045550
ClinGen	rs797045550
ebi	rs797045550
HLI	rs797045550
Exac	rs797045550
Gnomad	rs797045550
Varsome	rs797045550
LitVar	rs797045550
Map	rs797045550
PheGenI	rs797045550
Biobank	rs797045550
1000 genomes	rs797045550
hgdp	rs797045550
ensembl	rs797045550
geneview	rs797045550
scholar	rs797045550
google	rs797045550
pharmgkb	rs797045550
gwascentral	rs797045550
openSNP	rs797045550
23andMe	rs797045550
SNPshot	rs797045550
SNPdbe	rs797045550
MSV3d	rs797045550
GWAS Ctlg	rs797045550

Max Magnitude

0

ClinVar
Risk	rs797045550(C;C)
Alt	rs797045550(C;C)
Reference	Rs797045550(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.42945174C>G
CLNSRC
CLNACC	RCV000194510.1,