rs28939081

Orientation

minus

Stabilized

minus

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

Make rs28939081(A;A)

Make rs28939081(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

138709633

Gene

ATP6V0A4

is a	snp
is	mentioned by
dbSNP	rs28939081
dbSNP (classic)	rs28939081
ClinGen	rs28939081
ebi	rs28939081
HLI	rs28939081
Exac	rs28939081
Gnomad	rs28939081
Varsome	rs28939081
LitVar	rs28939081
Map	rs28939081
PheGenI	rs28939081
Biobank	rs28939081
1000 genomes	rs28939081
hgdp	rs28939081
ensembl	rs28939081
geneview	rs28939081
scholar	rs28939081
google	rs28939081
pharmgkb	rs28939081
gwascentral	rs28939081
openSNP	rs28939081
23andMe	rs28939081
SNPshot	rs28939081
SNPdbe	rs28939081
MSV3d	rs28939081
GWAS Ctlg	rs28939081

GMAF

0.0

Max Magnitude

0

OMIM	605239
Desc	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS
Variant	0010
Related	also

ClinVar
Risk	rs28939081(A;A)
Alt	rs28939081(A;A)
Reference	Rs28939081(G;G)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	ATP6V0A4
CLNDBN	Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss
Reversed	1
HGVS	NC_000007.13:g.138394378C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005466.4,