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rs587777137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777137(A;G)
Make rs587777137(G;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position128947302
GeneDOLK, NUP188
is asnp
is mentioned by
dbSNPrs587777137
ebirs587777137
HLIrs587777137
Exacrs587777137
Varsomers587777137
Maprs587777137
PheGenIrs587777137
hapmaprs587777137
1000 genomesrs587777137
hgdprs587777137
ensemblrs587777137
gopubmedrs587777137
geneviewrs587777137
scholarrs587777137
googlers587777137
pharmgkbrs587777137
gwascentralrs587777137
openSNPrs587777137
23andMers587777137
23andMe allrs587777137
SNP Nexus

SNPshotrs587777137
SNPdbers587777137
MSV3drs587777137
GWAS Ctlgrs587777137
Max Magnitude0
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 RCV000087064.3,