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rs121912753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912753(C;C)
Make rs121912753(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44251583
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912753
ebirs121912753
HLIrs121912753
Exacrs121912753
Varsomers121912753
Maprs121912753
PheGenIrs121912753
hapmaprs121912753
1000 genomesrs121912753
hgdprs121912753
ensemblrs121912753
gopubmedrs121912753
geneviewrs121912753
scholarrs121912753
googlers121912753
pharmgkbrs121912753
gwascentralrs121912753
openSNPrs121912753
23andMers121912753
23andMe allrs121912753
SNP Nexus

SNPshotrs121912753
SNPdbers121912753
MSV3drs121912753
GWAS Ctlgrs121912753
Max Magnitude0
OMIM109270
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121912753(C;C)
Alt rs121912753(C;C)
Reference rs121912753(T;T)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene SLC4A1
CLNDBN Renal tubular acidosis, distal, with normal red cell morphology
Reversed 1
HGVS NC_000017.10:g.42328951A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019356.28,