rs727504746

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs727504746(A;A)

Make rs727504746(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

70961694

Gene

ATP6V1B1

is a	snp
is	mentioned by
dbSNP	rs727504746
dbSNP (classic)	rs727504746
ClinGen	rs727504746
ebi	rs727504746
HLI	rs727504746
Exac	rs727504746
Gnomad	rs727504746
Varsome	rs727504746
LitVar	rs727504746
Map	rs727504746
PheGenI	rs727504746
Biobank	rs727504746
1000 genomes	rs727504746
hgdp	rs727504746
ensembl	rs727504746
geneview	rs727504746
scholar	rs727504746
google	rs727504746
pharmgkb	rs727504746
gwascentral	rs727504746
openSNP	rs727504746
23andMe	rs727504746
SNPshot	rs727504746
SNPdbe	rs727504746
MSV3d	rs727504746
GWAS Ctlg	rs727504746

Max Magnitude

0

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,