rs80356758

Orientation

plus

Stabilized

plus

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

Make rs80356758(C;T)

Make rs80356758(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123754537

Gene

ATP6V0A2

is a	snp
is	mentioned by
dbSNP	rs80356758
dbSNP (classic)	rs80356758
ClinGen	rs80356758
ebi	rs80356758
HLI	rs80356758
Exac	rs80356758
Gnomad	rs80356758
Varsome	rs80356758
LitVar	rs80356758
Map	rs80356758
PheGenI	rs80356758
Biobank	rs80356758
1000 genomes	rs80356758
hgdp	rs80356758
ensembl	rs80356758
geneview	rs80356758
scholar	rs80356758
google	rs80356758
pharmgkb	rs80356758
gwascentral	rs80356758
openSNP	rs80356758
23andMe	rs80356758
SNPshot	rs80356758
SNPdbe	rs80356758
MSV3d	rs80356758
GWAS Ctlg	rs80356758

Max Magnitude

0

OMIM	611716
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356758(T;T)
Alt	rs80356758(T;T)
Reference	Rs80356758(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.124239084C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000887.3,

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