rs367543007

Orientation

plus

Stabilized

plus

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

Make rs367543007(-;-)

Make rs367543007(-;CA)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123754417

Gene

ATP6V0A2

is a	snp
is	mentioned by
dbSNP	rs367543007
dbSNP (classic)	rs367543007
ClinGen	rs367543007
ebi	rs367543007
HLI	rs367543007
Exac	rs367543007
Gnomad	rs367543007
Varsome	rs367543007
LitVar	rs367543007
Map	rs367543007
PheGenI	rs367543007
Biobank	rs367543007
1000 genomes	rs367543007
hgdp	rs367543007
ensembl	rs367543007
geneview	rs367543007
scholar	rs367543007
google	rs367543007
pharmgkb	rs367543007
gwascentral	rs367543007
openSNP	rs367543007
23andMe	rs367543007
SNPshot	rs367543007
SNPdbe	rs367543007
MSV3d	rs367543007
GWAS Ctlg	rs367543007

Max Magnitude

0

ClinVar
Risk	rs367543007(-;-)
Alt	rs367543007(-;-)
Reference	Rs367543007(CA;CA)
Significance	Pathogenic
Disease	Cutis laxa with osteodystrophy
Variation	info
Gene	ATP6V0A2
CLNDBN	Cutis laxa with osteodystrophy
Reversed	0
HGVS	NC_000012.11:g.124238964_124238965delCA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020685.2,

[PMID 18157129] Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

[PMID 20301755] ATP6V0A2-Related Cutis Laxa