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rs121912754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912754(C;C)
Make rs121912754(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44255292
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912754
ebirs121912754
HLIrs121912754
Exacrs121912754
Varsomers121912754
Maprs121912754
PheGenIrs121912754
hapmaprs121912754
1000 genomesrs121912754
hgdprs121912754
ensemblrs121912754
gopubmedrs121912754
geneviewrs121912754
scholarrs121912754
googlers121912754
pharmgkbrs121912754
gwascentralrs121912754
openSNPrs121912754
23andMers121912754
23andMe allrs121912754
SNP Nexus

SNPshotrs121912754
SNPdbers121912754
MSV3drs121912754
GWAS Ctlgrs121912754
Max Magnitude0
OMIM109270
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121912754(C;C)
Alt rs121912754(C;C)
Reference rs121912754(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.42332660C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019357.28,