rs3807153

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0.1	benign
(C;T)	1	carrier of a benign change
(T;T)	0	normal

Reference

GRCh38 38.1/141

Chromosome

7

Position

138733046

Gene

ATP6V0A4

is a	snp
is	mentioned by
dbSNP	rs3807153
dbSNP (classic)	rs3807153
ClinGen	rs3807153
ebi	rs3807153
HLI	rs3807153
Exac	rs3807153
Gnomad	rs3807153
Varsome	rs3807153
LitVar	rs3807153
Map	rs3807153
PheGenI	rs3807153
Biobank	rs3807153
1000 genomes	rs3807153
hgdp	rs3807153
ensembl	rs3807153
geneview	rs3807153
scholar	rs3807153
google	rs3807153
pharmgkb	rs3807153
gwascentral	rs3807153
openSNP	rs3807153
23andMe	rs3807153
SNPshot	rs3807153
SNPdbe	rs3807153
MSV3d	rs3807153
GWAS Ctlg	rs3807153

GMAF

0.07805

Max Magnitude

1

?	(C;C) (C;T) (T;T)	28

OMIM	605239
Desc	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
Variant	0005
Related	also

ClinVar
Risk	Rs3807153(C;C)
Alt	Rs3807153(C;C)
Reference	Rs3807153(T;T)
Significance	Pathogenic
Disease	Renal tubular acidosis not specified Distal Renal Tubular Acidosis
Variation	info
Gene	ATP6V0A4
CLNDBN	Renal tubular acidosis, distal, autosomal recessive not specified Distal Renal Tubular Acidosis, Recessive
Reversed	1
HGVS	NC_000007.13:g.138417791A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005461.4, RCV000244134.1, RCV000362955.1,