rs879253726

Orientation

minus

Stabilized

minus

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

Make rs879253726(A;A)

Make rs879253726(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

44853364

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs879253726
dbSNP (classic)	rs879253726
ClinGen	rs879253726
ebi	rs879253726
HLI	rs879253726
Exac	rs879253726
Gnomad	rs879253726
Varsome	rs879253726
LitVar	rs879253726
Map	rs879253726
PheGenI	rs879253726
Biobank	rs879253726
1000 genomes	rs879253726
hgdp	rs879253726
ensembl	rs879253726
geneview	rs879253726
scholar	rs879253726
google	rs879253726
pharmgkb	rs879253726
gwascentral	rs879253726
openSNP	rs879253726
23andMe	rs879253726
SNPshot	rs879253726
SNPdbe	rs879253726
MSV3d	rs879253726
GWAS Ctlg	rs879253726

Max Magnitude

0

ClinVar
Risk	rs879253726(A;A)
Alt	rs879253726(A;A)
Reference	Rs879253726(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.42930732G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023356.3,