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rs121912751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912751(A;A)
Make rs121912751(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position44251241
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912751
ebirs121912751
HLIrs121912751
Exacrs121912751
Varsomers121912751
Maprs121912751
PheGenIrs121912751
hapmaprs121912751
1000 genomesrs121912751
hgdprs121912751
ensemblrs121912751
gopubmedrs121912751
geneviewrs121912751
scholarrs121912751
googlers121912751
pharmgkbrs121912751
gwascentralrs121912751
openSNPrs121912751
23andMers121912751
23andMe allrs121912751
SNP Nexus

SNPshotrs121912751
SNPdbers121912751
MSV3drs121912751
GWAS Ctlgrs121912751
Max Magnitude0
OMIM109270
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121912751(A;A)
Alt rs121912751(A;A)
Reference rs121912751(C;C)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene SLC4A1
CLNDBN Renal tubular acidosis, autosomal dominant
Reversed 1
HGVS NC_000017.10:g.42328609G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019348.27,