Have questions? Visit https://www.reddit.com/r/SNPedia

rs28937886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937886(C;G)
Make rs28937886(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position45811163
GeneSLC35C1
is asnp
is mentioned by
dbSNPrs28937886
dbSNP (classic)rs28937886
ClinGenrs28937886
ebirs28937886
HLIrs28937886
Exacrs28937886
Gnomadrs28937886
Varsomers28937886
LitVarrs28937886
Maprs28937886
PheGenIrs28937886
Biobankrs28937886
1000 genomesrs28937886
hgdprs28937886
ensemblrs28937886
geneviewrs28937886
scholarrs28937886
googlers28937886
pharmgkbrs28937886
gwascentralrs28937886
openSNPrs28937886
23andMers28937886
SNPshotrs28937886
SNPdbers28937886
MSV3drs28937886
GWAS Ctlgrs28937886
Max Magnitude0
OMIM605881
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
Variant0002
Relatedalso


ClinVar
Risk rs28937886(G;G)
Alt rs28937886(G;G)
Reference Rs28937886(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.45832714C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005006.3,