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rs121912748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912748(A;A)
Make rs121912748(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44253327
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912748
ebirs121912748
HLIrs121912748
Exacrs121912748
Varsomers121912748
Maprs121912748
PheGenIrs121912748
hapmaprs121912748
1000 genomesrs121912748
hgdprs121912748
ensemblrs121912748
gopubmedrs121912748
geneviewrs121912748
scholarrs121912748
googlers121912748
pharmgkbrs121912748
gwascentralrs121912748
openSNPrs121912748
23andMers121912748
23andMe allrs121912748
SNP Nexus

SNPshotrs121912748
SNPdbers121912748
MSV3drs121912748
GWAS Ctlgrs121912748
GMAF0.0004591
Max Magnitude0
OMIM109270
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912748(A;A)
Alt rs121912748(A;A)
Reference rs121912748(G;G)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene SLC4A1
CLNDBN Renal tubular acidosis, distal, with hemolytic anemia
Reversed 1
HGVS NC_000017.10:g.42330695C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019344.28,