rs386833693

Orientation

plus

Stabilized

plus

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

Make rs386833693(A;G)

Make rs386833693(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

128522658

Gene

GLE1

is a	snp
is	mentioned by
dbSNP	rs386833693
dbSNP (classic)	rs386833693
ClinGen	rs386833693
ebi	rs386833693
HLI	rs386833693
Exac	rs386833693
Gnomad	rs386833693
Varsome	rs386833693
LitVar	rs386833693
Map	rs386833693
PheGenI	rs386833693
Biobank	rs386833693
1000 genomes	rs386833693
hgdp	rs386833693
ensembl	rs386833693
geneview	rs386833693
scholar	rs386833693
google	rs386833693
pharmgkb	rs386833693
gwascentral	rs386833693
openSNP	rs386833693
23andMe	rs386833693
SNPshot	rs386833693
SNPdbe	rs386833693
MSV3d	rs386833693
GWAS Ctlg	rs386833693

Max Magnitude

0

ClinVar
Risk	rs386833693(G;G) rs386833693(T;T)
Alt	rs386833693(G;G) rs386833693(T;T)
Reference	Rs386833693(A;A)
Significance	Pathogenic
Disease	Lethal congenital contracture syndrome 1 Lethal arthrogryposis with anterior horn cell disease
Variation	info
Gene	GLE1
CLNDBN	Lethal congenital contracture syndrome 1 Lethal arthrogryposis with anterior horn cell disease
Reversed	0
HGVS	NC_000009.11:g.131284937A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006833.2, RCV000049654.1,

[PMID 18204449] Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.