rs80356754

Orientation

plus

Stabilized

plus

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

Make rs80356754(-;-)

Make rs80356754(-;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123737072

Gene

ATP6V0A2

is a	snp
is	mentioned by
dbSNP	rs80356754
dbSNP (classic)	rs80356754
ClinGen	rs80356754
ebi	rs80356754
HLI	rs80356754
Exac	rs80356754
Gnomad	rs80356754
Varsome	rs80356754
LitVar	rs80356754
Map	rs80356754
PheGenI	rs80356754
Biobank	rs80356754
1000 genomes	rs80356754
hgdp	rs80356754
ensembl	rs80356754
geneview	rs80356754
scholar	rs80356754
google	rs80356754
pharmgkb	rs80356754
gwascentral	rs80356754
openSNP	rs80356754
23andMe	rs80356754
SNPshot	rs80356754
SNPdbe	rs80356754
MSV3d	rs80356754
GWAS Ctlg	rs80356754

Max Magnitude

0

ClinVar
Risk	rs80356754(-;-)
Alt	rs80356754(-;-)
Reference	Rs80356754(C;C)
Significance	Pathogenic
Disease	Cutis laxa with osteodystrophy
Variation	info
Gene	ATP6V0A2
CLNDBN	Cutis laxa with osteodystrophy
Reversed	0
HGVS	NC_000012.11:g.124221619delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020691.2,

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