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rs28939087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939087(C;T)
Make rs28939087(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position45806240
GeneSLC35C1
is asnp
is mentioned by
dbSNPrs28939087
ebirs28939087
HLIrs28939087
Exacrs28939087
Varsomers28939087
Maprs28939087
PheGenIrs28939087
hapmaprs28939087
1000 genomesrs28939087
hgdprs28939087
ensemblrs28939087
gopubmedrs28939087
geneviewrs28939087
scholarrs28939087
googlers28939087
pharmgkbrs28939087
gwascentralrs28939087
openSNPrs28939087
23andMers28939087
23andMe allrs28939087
SNP Nexus

SNPshotrs28939087
SNPdbers28939087
MSV3drs28939087
GWAS Ctlgrs28939087
Max Magnitude0
OMIM605881
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
Variant0001
Relatedalso


ClinVar
Risk rs28939087(T;T)
Alt rs28939087(T;T)
Reference rs28939087(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2C
Variation info
Gene SLC35C1
CLNDBN Congenital disorder of glycosylation type 2C
Reversed 0
HGVS NC_000011.9:g.45827791C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005005.3,