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rs137853109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853109(A;A)
Make rs137853109(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position128947009
GeneDOLK, NUP188
is asnp
is mentioned by
dbSNPrs137853109
ebirs137853109
HLIrs137853109
Exacrs137853109
Varsomers137853109
Maprs137853109
PheGenIrs137853109
hapmaprs137853109
1000 genomesrs137853109
hgdprs137853109
ensemblrs137853109
gopubmedrs137853109
geneviewrs137853109
scholarrs137853109
googlers137853109
pharmgkbrs137853109
gwascentralrs137853109
openSNPrs137853109
23andMers137853109
23andMe allrs137853109
SNP Nexus

SNPshotrs137853109
SNPdbers137853109
MSV3drs137853109
GWAS Ctlgrs137853109
Max Magnitude0
OMIM610746
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853109(A;A)
Alt rs137853109(A;A)
Reference rs137853109(T;T)
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.131709288A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001190.2,