rs1057518932

Orientation

minus

Stabilized

minus

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

Make rs1057518932(A;T)

Make rs1057518932(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

44855003

Gene

EFTUD2

is a	snp
is	mentioned by
dbSNP	rs1057518932
dbSNP (classic)	rs1057518932
ClinGen	rs1057518932
ebi	rs1057518932
HLI	rs1057518932
Exac	rs1057518932
Gnomad	rs1057518932
Varsome	rs1057518932
LitVar	rs1057518932
Map	rs1057518932
PheGenI	rs1057518932
Biobank	rs1057518932
1000 genomes	rs1057518932
hgdp	rs1057518932
ensembl	rs1057518932
geneview	rs1057518932
scholar	rs1057518932
google	rs1057518932
pharmgkb	rs1057518932
gwascentral	rs1057518932
openSNP	rs1057518932
23andMe	rs1057518932
SNPshot	rs1057518932
SNPdbe	rs1057518932
MSV3d	rs1057518932
GWAS Ctlg	rs1057518932

Max Magnitude

0

ClinVar
Risk	rs1057518932(T;T)
Alt	rs1057518932(T;T)
Reference	Rs1057518932(A;A)
Significance	Probable-Pathogenic
Disease	Global developmental delay Seizures
Variation	info
Gene	EFTUD2
CLNDBN	Global developmental delay Seizures
Reversed	1
HGVS	NC_000017.10:g.42932371T>A
CLNSRC
CLNACC	RCV000415160.1,