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rs121964880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964880(C;C)
Make rs121964880(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position70958113
GeneATP6V1B1
is asnp
is mentioned by
dbSNPrs121964880
ebirs121964880
HLIrs121964880
Exacrs121964880
Varsomers121964880
Maprs121964880
PheGenIrs121964880
hapmaprs121964880
1000 genomesrs121964880
hgdprs121964880
ensemblrs121964880
gopubmedrs121964880
geneviewrs121964880
scholarrs121964880
googlers121964880
pharmgkbrs121964880
gwascentralrs121964880
openSNPrs121964880
23andMers121964880
23andMe allrs121964880
SNP Nexus

SNPshotrs121964880
SNPdbers121964880
MSV3drs121964880
GWAS Ctlgrs121964880
Max Magnitude0
OMIM192132
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964880(C;C)
Alt rs121964880(C;C)
Reference rs121964880(T;T)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V1B1
CLNDBN Renal tubular acidosis, distal, with progressive deafness
Reversed 0
HGVS NC_000002.11:g.71185243T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013014.25,