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rs121912746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912746(C;T)
Make rs121912746(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44255259
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912746
ebirs121912746
HLIrs121912746
Exacrs121912746
Varsomers121912746
Maprs121912746
PheGenIrs121912746
hapmaprs121912746
1000 genomesrs121912746
hgdprs121912746
ensemblrs121912746
gopubmedrs121912746
geneviewrs121912746
scholarrs121912746
googlers121912746
pharmgkbrs121912746
gwascentralrs121912746
openSNPrs121912746
23andMers121912746
23andMe allrs121912746
SNP Nexus

SNPshotrs121912746
SNPdbers121912746
MSV3drs121912746
GWAS Ctlgrs121912746
Max Magnitude0
OMIM109270
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912746(T;T)
Alt rs121912746(T;T)
Reference rs121912746(C;C)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene SLC4A1
CLNDBN Renal tubular acidosis, distal, autosomal dominant
Reversed 1
HGVS NC_000017.10:g.42332627G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019342.24,