rs80356756

Orientation

plus

Stabilized

plus

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

Make rs80356756(-;-)

Make rs80356756(-;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123748779

Gene

ATP6V0A2

is a	snp
is	mentioned by
dbSNP	rs80356756
dbSNP (classic)	rs80356756
ClinGen	rs80356756
ebi	rs80356756
HLI	rs80356756
Exac	rs80356756
Gnomad	rs80356756
Varsome	rs80356756
LitVar	rs80356756
Map	rs80356756
PheGenI	rs80356756
Biobank	rs80356756
1000 genomes	rs80356756
hgdp	rs80356756
ensembl	rs80356756
geneview	rs80356756
scholar	rs80356756
google	rs80356756
pharmgkb	rs80356756
gwascentral	rs80356756
openSNP	rs80356756
23andMe	rs80356756
SNPshot	rs80356756
SNPdbe	rs80356756
MSV3d	rs80356756
GWAS Ctlg	rs80356756

Max Magnitude

0

ClinVar
Risk	rs80356756(-;-)
Alt	rs80356756(-;-)
Reference	Rs80356756(A;A)
Significance	Pathogenic
Disease	Cutis laxa with osteodystrophy
Variation	info
Gene	ATP6V0A2
CLNDBN	Cutis laxa with osteodystrophy
Reversed	0
HGVS	NC_000012.11:g.124233326delA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020684.2,

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