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rs398124345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124345(G;T)
Make rs398124345(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position45805892
GeneSLC35C1
is asnp
is mentioned by
dbSNPrs398124345
dbSNP (classic)rs398124345
ClinGenrs398124345
ebirs398124345
HLIrs398124345
Exacrs398124345
Gnomadrs398124345
Varsomers398124345
LitVarrs398124345
Maprs398124345
PheGenIrs398124345
Biobankrs398124345
1000 genomesrs398124345
hgdprs398124345
ensemblrs398124345
geneviewrs398124345
scholarrs398124345
googlers398124345
pharmgkbrs398124345
gwascentralrs398124345
openSNPrs398124345
23andMers398124345
SNPshotrs398124345
SNPdbers398124345
MSV3drs398124345
GWAS Ctlgrs398124345
Max Magnitude0
ClinVar
Risk rs398124345(T;T)
Alt rs398124345(T;T)
Reference Rs398124345(G;G)
Significance Pathogenic
Disease not provided Congenital disorder of glycosylation type 2C
Variation info
Gene SLC35C1
CLNDBN not provided Congenital disorder of glycosylation type 2C
Reversed 0
HGVS NC_000011.9:g.45827443G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000081954.4, RCV000133550.3,