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rs121912752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTG;GTG) 0 common in clinvar
Make rs121912752(-;-)
Make rs121912752(-;GTG)
ReferenceGRCh38 38.1/141
Chromosome17
Position44251264
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912752
ebirs121912752
HLIrs121912752
Exacrs121912752
Varsomers121912752
Maprs121912752
PheGenIrs121912752
hapmaprs121912752
1000 genomesrs121912752
hgdprs121912752
ensemblrs121912752
gopubmedrs121912752
geneviewrs121912752
scholarrs121912752
googlers121912752
pharmgkbrs121912752
gwascentralrs121912752
openSNPrs121912752
23andMers121912752
23andMe allrs121912752
SNP Nexus

SNPshotrs121912752
SNPdbers121912752
MSV3drs121912752
GWAS Ctlgrs121912752
Max Magnitude0
OMIM109270
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121912752(;)
Alt rs121912752(;)
Reference rs121912752(GTG;GTG)
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.42328632_42328634delCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019349.27,