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rs121912744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912744(A;A)
Make rs121912744(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44255707
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912744
ebirs121912744
HLIrs121912744
Exacrs121912744
Varsomers121912744
Maprs121912744
PheGenIrs121912744
hapmaprs121912744
1000 genomesrs121912744
hgdprs121912744
ensemblrs121912744
gopubmedrs121912744
geneviewrs121912744
scholarrs121912744
googlers121912744
pharmgkbrs121912744
gwascentralrs121912744
openSNPrs121912744
23andMers121912744
23andMe allrs121912744
SNP Nexus

SNPshotrs121912744
SNPdbers121912744
MSV3drs121912744
GWAS Ctlgrs121912744
Max Magnitude0
OMIM109270
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912744(A;A)
Alt rs121912744(A;A)
Reference rs121912744(G;G)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene SLC4A1
CLNDBN Renal tubular acidosis, distal, autosomal dominant
Reversed 1
HGVS NC_000017.10:g.42333075C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019340.28,