rs879253727

Orientation

minus

Stabilized

minus

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

Make rs879253727(C;G)

Make rs879253727(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

44853361

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs879253727
dbSNP (classic)	rs879253727
ClinGen	rs879253727
ebi	rs879253727
HLI	rs879253727
Exac	rs879253727
Gnomad	rs879253727
Varsome	rs879253727
LitVar	rs879253727
Map	rs879253727
PheGenI	rs879253727
Biobank	rs879253727
1000 genomes	rs879253727
hgdp	rs879253727
ensembl	rs879253727
geneview	rs879253727
scholar	rs879253727
google	rs879253727
pharmgkb	rs879253727
gwascentral	rs879253727
openSNP	rs879253727
23andMe	rs879253727
SNPshot	rs879253727
SNPdbe	rs879253727
MSV3d	rs879253727
GWAS Ctlg	rs879253727

Max Magnitude

0

ClinVar
Risk	rs879253727(G;G)
Alt	rs879253727(G;G)
Reference	Rs879253727(C;C)
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.42930729G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024338.3,