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rs121913029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGG;TGG) 0 common in clinvar
Make rs121913029(-;-)
Make rs121913029(-;GTG)
Make rs121913029(GTG;GTG)
ReferenceGRCh38 38.1/141
Chromosome7
Position107786847
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs121913029
ebirs121913029
HLIrs121913029
Exacrs121913029
Varsomers121913029
Maprs121913029
PheGenIrs121913029
hapmaprs121913029
1000 genomesrs121913029
hgdprs121913029
ensemblrs121913029
gopubmedrs121913029
geneviewrs121913029
scholarrs121913029
googlers121913029
pharmgkbrs121913029
gwascentralrs121913029
openSNPrs121913029
23andMers121913029
23andMe allrs121913029
SNP Nexus

SNPshotrs121913029
SNPdbers121913029
MSV3drs121913029
GWAS Ctlgrs121913029
Max Magnitude0
OMIM126650
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913029(;)
Alt rs121913029(;)
Reference rs121913029(TGG;TGG)
Significance Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107427292_107427294delCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018239.27,