rs121908368

Orientation

minus

Stabilized

minus

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

Make rs121908368(C;T)

Make rs121908368(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

138739541

Gene

ATP6V0A4

is a	snp
is	mentioned by
dbSNP	rs121908368
dbSNP (classic)	rs121908368
ClinGen	rs121908368
ebi	rs121908368
HLI	rs121908368
Exac	rs121908368
Gnomad	rs121908368
Varsome	rs121908368
LitVar	rs121908368
Map	rs121908368
PheGenI	rs121908368
Biobank	rs121908368
1000 genomes	rs121908368
hgdp	rs121908368
ensembl	rs121908368
geneview	rs121908368
scholar	rs121908368
google	rs121908368
pharmgkb	rs121908368
gwascentral	rs121908368
openSNP	rs121908368
23andMe	rs121908368
SNPshot	rs121908368
SNPdbe	rs121908368
MSV3d	rs121908368
GWAS Ctlg	rs121908368

Max Magnitude

0

OMIM	605239
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908368(T;T)
Alt	rs121908368(T;T)
Reference	Rs121908368(C;C)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	ATP6V0A4
CLNDBN	Renal tubular acidosis, distal, autosomal recessive
Reversed	1
HGVS	NC_000007.13:g.138424286G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005464.4,