rs397515431

Orientation

minus

Stabilized

minus

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

Make rs397515431(A;G)

Make rs397515431(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44879635

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs397515431
dbSNP (classic)	rs397515431
ClinGen	rs397515431
ebi	rs397515431
HLI	rs397515431
Exac	rs397515431
Gnomad	rs397515431
Varsome	rs397515431
LitVar	rs397515431
Map	rs397515431
PheGenI	rs397515431
Biobank	rs397515431
1000 genomes	rs397515431
hgdp	rs397515431
ensembl	rs397515431
geneview	rs397515431
scholar	rs397515431
google	rs397515431
pharmgkb	rs397515431
gwascentral	rs397515431
openSNP	rs397515431
23andMe	rs397515431
SNPshot	rs397515431
SNPdbe	rs397515431
MSV3d	rs397515431
GWAS Ctlg	rs397515431

Max Magnitude

0

ClinVar
Risk	rs397515431(G;G)
Alt	rs397515431(G;G)
Reference	Rs397515431(A;A)
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.42957003T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033145.3,