rs80356752

Orientation

plus

Stabilized

plus

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

Make rs80356752(-;-)

Make rs80356752(-;TG)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123724712

Gene	ATP6V0A2, LOC105370042

is a	snp
is	mentioned by
dbSNP	rs80356752
dbSNP (classic)	rs80356752
ClinGen	rs80356752
ebi	rs80356752
HLI	rs80356752
Exac	rs80356752
Gnomad	rs80356752
Varsome	rs80356752
LitVar	rs80356752
Map	rs80356752
PheGenI	rs80356752
Biobank	rs80356752
1000 genomes	rs80356752
hgdp	rs80356752
ensembl	rs80356752
geneview	rs80356752
scholar	rs80356752
google	rs80356752
pharmgkb	rs80356752
gwascentral	rs80356752
openSNP	rs80356752
23andMe	rs80356752
SNPshot	rs80356752
SNPdbe	rs80356752
MSV3d	rs80356752
GWAS Ctlg	rs80356752

Max Magnitude

0

ClinVar
Risk	rs80356752(-;-)
Alt	rs80356752(-;-)
Reference	Rs80356752(TG;TG)
Significance	Pathogenic
Disease	Cutis laxa with osteodystrophy
Variation	info
Gene	ATP6V0A2
CLNDBN	Cutis laxa with osteodystrophy
Reversed	0
HGVS	NC_000012.11:g.124209259_124209260delTG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020689.2,

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