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rs387907030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907030(C;G)
Make rs387907030(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position128946082
GeneDOLK, NUP188
is asnp
is mentioned by
dbSNPrs387907030
ebirs387907030
HLIrs387907030
Exacrs387907030
Varsomers387907030
Maprs387907030
PheGenIrs387907030
hapmaprs387907030
1000 genomesrs387907030
hgdprs387907030
ensemblrs387907030
gopubmedrs387907030
geneviewrs387907030
scholarrs387907030
googlers387907030
pharmgkbrs387907030
gwascentralrs387907030
openSNPrs387907030
23andMers387907030
23andMe allrs387907030
SNP Nexus

SNPshotrs387907030
SNPdbers387907030
MSV3drs387907030
GWAS Ctlgrs387907030
Max Magnitude0
ClinVar
Risk rs387907030(G;G)
Alt rs387907030(G;G)
Reference rs387907030(C;C)
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.131708361G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023835.2,