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rs121912668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912668(A;A)
Make rs121912668(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position32043363
GeneSLC5A1
is asnp
is mentioned by
dbSNPrs121912668
dbSNP (classic)rs121912668
ClinGenrs121912668
ebirs121912668
HLIrs121912668
Exacrs121912668
Gnomadrs121912668
Varsomers121912668
LitVarrs121912668
Maprs121912668
PheGenIrs121912668
Biobankrs121912668
1000 genomesrs121912668
hgdprs121912668
ensemblrs121912668
geneviewrs121912668
scholarrs121912668
googlers121912668
pharmgkbrs121912668
gwascentralrs121912668
openSNPrs121912668
23andMers121912668
SNPshotrs121912668
SNPdbers121912668
MSV3drs121912668
GWAS Ctlgrs121912668
Max Magnitude0
OMIM182380
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912668(A;A)
Alt rs121912668(A;A)
Reference Rs121912668(G;G)
Significance Pathogenic
Disease Congenital glucose-galactose malabsorption
Variation info
Gene SLC5A1
CLNDBN Congenital glucose-galactose malabsorption
Reversed 0
HGVS NC_000022.10:g.32439350G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013770.24,