rs137853110

Orientation

minus

Stabilized

minus

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

Make rs137853110(A;C)

Make rs137853110(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

128945982

Gene	DOLK, NUP188

is a	snp
is	mentioned by
dbSNP	rs137853110
dbSNP (classic)	rs137853110
ClinGen	rs137853110
ebi	rs137853110
HLI	rs137853110
Exac	rs137853110
Gnomad	rs137853110
Varsome	rs137853110
LitVar	rs137853110
Map	rs137853110
PheGenI	rs137853110
Biobank	rs137853110
1000 genomes	rs137853110
hgdp	rs137853110
ensembl	rs137853110
geneview	rs137853110
scholar	rs137853110
google	rs137853110
pharmgkb	rs137853110
gwascentral	rs137853110
openSNP	rs137853110
23andMe	rs137853110
SNPshot	rs137853110
SNPdbe	rs137853110
MSV3d	rs137853110
GWAS Ctlg	rs137853110

Max Magnitude

0

OMIM	610746
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853110(C;C)
Alt	rs137853110(C;C)
Reference	Rs137853110(A;A)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1M
Variation	info
Gene	DOLK NUP188
CLNDBN	Congenital disorder of glycosylation type 1M
Reversed	1
HGVS	NC_000009.11:g.131708261T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001191.3,