rs863224868

Orientation

minus

Stabilized

minus

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

Make rs863224868(G;G)

Make rs863224868(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44857073

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs863224868
dbSNP (classic)	rs863224868
ClinGen	rs863224868
ebi	rs863224868
HLI	rs863224868
Exac	rs863224868
Gnomad	rs863224868
Varsome	rs863224868
LitVar	rs863224868
Map	rs863224868
PheGenI	rs863224868
Biobank	rs863224868
1000 genomes	rs863224868
hgdp	rs863224868
ensembl	rs863224868
geneview	rs863224868
scholar	rs863224868
google	rs863224868
pharmgkb	rs863224868
gwascentral	rs863224868
openSNP	rs863224868
23andMe	rs863224868
SNPshot	rs863224868
SNPdbe	rs863224868
MSV3d	rs863224868
GWAS Ctlg	rs863224868

Max Magnitude

0

ClinVar
Risk	rs863224868(G;G)
Alt	rs863224868(G;G)
Reference	Rs863224868(T;T)
Significance	Probable-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.42934441A>C
CLNSRC
CLNACC	RCV000197354.1,