rs80356750

Orientation

plus

Stabilized

plus

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

Make rs80356750(C;T)

Make rs80356750(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123718692

Gene	ATP6V0A2, LOC105370042

is a	snp
is	mentioned by
dbSNP	rs80356750
dbSNP (classic)	rs80356750
ClinGen	rs80356750
ebi	rs80356750
HLI	rs80356750
Exac	rs80356750
Gnomad	rs80356750
Varsome	rs80356750
LitVar	rs80356750
Map	rs80356750
PheGenI	rs80356750
Biobank	rs80356750
1000 genomes	rs80356750
hgdp	rs80356750
ensembl	rs80356750
geneview	rs80356750
scholar	rs80356750
google	rs80356750
pharmgkb	rs80356750
gwascentral	rs80356750
openSNP	rs80356750
23andMe	rs80356750
SNPshot	rs80356750
SNPdbe	rs80356750
MSV3d	rs80356750
GWAS Ctlg	rs80356750

Max Magnitude

0

OMIM	611716
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80356750(T;T)
Alt	rs80356750(T;T)
Reference	Rs80356750(C;C)
Significance	Pathogenic
Disease	Cutis laxa with osteodystrophy not provided
Variation	info
Gene	ATP6V0A2
CLNDBN	Cutis laxa with osteodystrophy not provided
Reversed	0
HGVS	NC_000012.11:g.124203239C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000000888.3, RCV000081548.3,

[PMID 15657616] Defective protein glycosylation in patients with cutis laxa syndrome.

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