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rs137853110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853110(A;C)
Make rs137853110(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position128945982
GeneDOLK, NUP188
is asnp
is mentioned by
dbSNPrs137853110
ebirs137853110
HLIrs137853110
Exacrs137853110
Varsomers137853110
Maprs137853110
PheGenIrs137853110
hapmaprs137853110
1000 genomesrs137853110
hgdprs137853110
ensemblrs137853110
gopubmedrs137853110
geneviewrs137853110
scholarrs137853110
googlers137853110
pharmgkbrs137853110
gwascentralrs137853110
openSNPrs137853110
23andMers137853110
23andMe allrs137853110
SNP Nexus

SNPshotrs137853110
SNPdbers137853110
MSV3drs137853110
GWAS Ctlgrs137853110
Max Magnitude0
OMIM610746
Desc
Variant0002
Relatedalso
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
CLNACC RCV000001191.2,