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rs121964881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964881(A;A)
Make rs121964881(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position70958103
GeneATP6V1B1
is asnp
is mentioned by
dbSNPrs121964881
ebirs121964881
HLIrs121964881
Exacrs121964881
Varsomers121964881
Maprs121964881
PheGenIrs121964881
hapmaprs121964881
1000 genomesrs121964881
hgdprs121964881
ensemblrs121964881
gopubmedrs121964881
geneviewrs121964881
scholarrs121964881
googlers121964881
pharmgkbrs121964881
gwascentralrs121964881
openSNPrs121964881
23andMers121964881
23andMe allrs121964881
SNP Nexus

SNPshotrs121964881
SNPdbers121964881
MSV3drs121964881
GWAS Ctlgrs121964881
Max Magnitude0
OMIM192132
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964881(A;A)
Alt rs121964881(A;A)
Reference rs121964881(G;G)
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.71185233G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013015.22,