rs121964881

Orientation

plus

Stabilized

plus

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

Make rs121964881(A;A)

Make rs121964881(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

70958103

Gene

ATP6V1B1

is a	snp
is	mentioned by
dbSNP	rs121964881
dbSNP (classic)	rs121964881
ClinGen	rs121964881
ebi	rs121964881
HLI	rs121964881
Exac	rs121964881
Gnomad	rs121964881
Varsome	rs121964881
LitVar	rs121964881
Map	rs121964881
PheGenI	rs121964881
Biobank	rs121964881
1000 genomes	rs121964881
hgdp	rs121964881
ensembl	rs121964881
geneview	rs121964881
scholar	rs121964881
google	rs121964881
pharmgkb	rs121964881
gwascentral	rs121964881
openSNP	rs121964881
23andMe	rs121964881
SNPshot	rs121964881
SNPdbe	rs121964881
MSV3d	rs121964881
GWAS Ctlg	rs121964881

Max Magnitude

0

OMIM	192132
Desc
Variant	0005
Related	also

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,