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rs121964879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964879(C;T)
Make rs121964879(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position70936045
GeneATP6V1B1
is asnp
is mentioned by
dbSNPrs121964879
ebirs121964879
HLIrs121964879
Exacrs121964879
Varsomers121964879
Maprs121964879
PheGenIrs121964879
hapmaprs121964879
1000 genomesrs121964879
hgdprs121964879
ensemblrs121964879
gopubmedrs121964879
geneviewrs121964879
scholarrs121964879
googlers121964879
pharmgkbrs121964879
gwascentralrs121964879
openSNPrs121964879
23andMers121964879
23andMe allrs121964879
SNP Nexus

SNPshotrs121964879
SNPdbers121964879
MSV3drs121964879
GWAS Ctlgrs121964879
Max Magnitude0
OMIM192132
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964879(T;T)
Alt rs121964879(T;T)
Reference rs121964879(C;C)
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.71163175C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013011.22,