Have questions? Visit https://www.reddit.com/r/SNPedia

rs727504746

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504746(A;A)
Make rs727504746(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position70961694
GeneATP6V1B1
is asnp
is mentioned by
dbSNPrs727504746
ebirs727504746
HLIrs727504746
Exacrs727504746
Varsomers727504746
Maprs727504746
PheGenIrs727504746
hapmaprs727504746
1000 genomesrs727504746
hgdprs727504746
ensemblrs727504746
gopubmedrs727504746
geneviewrs727504746
scholarrs727504746
googlers727504746
pharmgkbrs727504746
gwascentralrs727504746
openSNPrs727504746
23andMers727504746
23andMe allrs727504746
SNP Nexus

SNPshotrs727504746
SNPdbers727504746
MSV3drs727504746
GWAS Ctlgrs727504746
Max Magnitude0
ClinVar
Risk rs727504746(A;A)
Alt rs727504746(A;A)
Reference rs727504746(G;G)
Significance Pathogenic
Disease Renal tubular acidosis with progressive nerve deafness
Variation info
Gene ATP6V1B1
CLNDBN Renal tubular acidosis with progressive nerve deafness
Reversed 0
HGVS NC_000002.11:g.71188824G>A
CLNSRC
CLNACC RCV000156046.1,