rs587777137

Orientation

plus

Stabilized

plus

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

Make rs587777137(A;G)

Make rs587777137(G;G)

Reference

GRCh38 38.1/142

Chromosome

9

Position

128947302

Gene	DOLK, NUP188

is a	snp
is	mentioned by
dbSNP	rs587777137
dbSNP (classic)	rs587777137
ClinGen	rs587777137
ebi	rs587777137
HLI	rs587777137
Exac	rs587777137
Gnomad	rs587777137
Varsome	rs587777137
LitVar	rs587777137
Map	rs587777137
PheGenI	rs587777137
Biobank	rs587777137
1000 genomes	rs587777137
hgdp	rs587777137
ensembl	rs587777137
geneview	rs587777137
scholar	rs587777137
google	rs587777137
pharmgkb	rs587777137
gwascentral	rs587777137
openSNP	rs587777137
23andMe	rs587777137
SNPshot	rs587777137
SNPdbe	rs587777137
MSV3d	rs587777137
GWAS Ctlg	rs587777137

Max Magnitude

0

ClinVar
Risk	rs587777137(G;G)
Alt	rs587777137(G;G)
Reference	Rs587777137(A;A)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1M
Variation	info
Gene	DOLK NUP188
CLNDBN	Congenital disorder of glycosylation type 1M
Reversed	0
HGVS	NC_000009.11:g.131709581A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087064.4,