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rs121912745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912745(C;T)
Make rs121912745(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44255708
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912745
ebirs121912745
HLIrs121912745
Exacrs121912745
Varsomers121912745
Maprs121912745
PheGenIrs121912745
hapmaprs121912745
1000 genomesrs121912745
hgdprs121912745
ensemblrs121912745
gopubmedrs121912745
geneviewrs121912745
scholarrs121912745
googlers121912745
pharmgkbrs121912745
gwascentralrs121912745
openSNPrs121912745
23andMers121912745
23andMe allrs121912745
SNP Nexus

SNPshotrs121912745
SNPdbers121912745
MSV3drs121912745
GWAS Ctlgrs121912745
Merged fromRs121912747
Max Magnitude0
OMIM109270
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912745(A,T;A,T)
Alt rs121912745(A,T;A,T)
Reference rs121912745(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.42333076G>A; NC_000017.10:g.42333076G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019341.24, RCV000019343.28,