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rs121912747

From SNPedia

Merged intors121912745
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912747(A;A)
Make rs121912747(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position44255708
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912747
ebirs121912747
HLIrs121912747
Exacrs121912747
Varsomers121912747
Maprs121912747
PheGenIrs121912747
hapmaprs121912747
1000 genomesrs121912747
hgdprs121912747
ensemblrs121912747
gopubmedrs121912747
geneviewrs121912747
scholarrs121912747
googlers121912747
pharmgkbrs121912747
gwascentralrs121912747
openSNPrs121912747
23andMers121912747
23andMe allrs121912747
SNP Nexus

SNPshotrs121912747
SNPdbers121912747
MSV3drs121912747
GWAS Ctlgrs121912747
StatusMerged into rs121912745
Max Magnitude0
OMIM109270
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912747(A;A)
Alt rs121912747(A;A)
Reference rs121912747(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>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000039633.1,