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rs121912669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912669(A;G)
Make rs121912669(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position32043364
GeneSLC5A1
is asnp
is mentioned by
dbSNPrs121912669
dbSNP (classic)rs121912669
ClinGenrs121912669
ebirs121912669
HLIrs121912669
Exacrs121912669
Gnomadrs121912669
Varsomers121912669
LitVarrs121912669
Maprs121912669
PheGenIrs121912669
Biobankrs121912669
1000 genomesrs121912669
hgdprs121912669
ensemblrs121912669
geneviewrs121912669
scholarrs121912669
googlers121912669
pharmgkbrs121912669
gwascentralrs121912669
openSNPrs121912669
23andMers121912669
SNPshotrs121912669
SNPdbers121912669
MSV3drs121912669
GWAS Ctlgrs121912669
Max Magnitude0
OMIM182380
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912669(G;G)
Alt rs121912669(G;G)
Reference Rs121912669(A;A)
Significance Pathogenic
Disease Congenital glucose-galactose malabsorption
Variation info
Gene SLC5A1
CLNDBN Congenital glucose-galactose malabsorption
Reversed 0
HGVS NC_000022.10:g.32439351A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013771.23,