rs387906878

Orientation

minus

Stabilized

minus

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

Make rs387906878(C;T)

Make rs387906878(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44851763

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs387906878
dbSNP (classic)	rs387906878
ClinGen	rs387906878
ebi	rs387906878
HLI	rs387906878
Exac	rs387906878
Gnomad	rs387906878
Varsome	rs387906878
LitVar	rs387906878
Map	rs387906878
PheGenI	rs387906878
Biobank	rs387906878
1000 genomes	rs387906878
hgdp	rs387906878
ensembl	rs387906878
geneview	rs387906878
scholar	rs387906878
google	rs387906878
pharmgkb	rs387906878
gwascentral	rs387906878
openSNP	rs387906878
23andMe	rs387906878
SNPshot	rs387906878
SNPdbe	rs387906878
MSV3d	rs387906878
GWAS Ctlg	rs387906878

Max Magnitude

0

ClinVar
Risk	rs387906878(T;T)
Alt	rs387906878(T;T)
Reference	Rs387906878(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.42929131G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023354.3,