rs374480381

Orientation

plus

Stabilized

plus

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

Make rs374480381(A;A)

Make rs374480381(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123744785

Gene

ATP6V0A2

is a	snp
is	mentioned by
dbSNP	rs374480381
dbSNP (classic)	rs374480381
ClinGen	rs374480381
ebi	rs374480381
HLI	rs374480381
Exac	rs374480381
Gnomad	rs374480381
Varsome	rs374480381
LitVar	rs374480381
Map	rs374480381
PheGenI	rs374480381
Biobank	rs374480381
1000 genomes	rs374480381
hgdp	rs374480381
ensembl	rs374480381
geneview	rs374480381
scholar	rs374480381
google	rs374480381
pharmgkb	rs374480381
gwascentral	rs374480381
openSNP	rs374480381
23andMe	rs374480381
SNPshot	rs374480381
SNPdbe	rs374480381
MSV3d	rs374480381
GWAS Ctlg	rs374480381

Max Magnitude

0

ClinVar
Risk	rs374480381(A;A)
Alt	rs374480381(A;A)
Reference	Rs374480381(G;G)
Significance	Pathogenic
Disease	not provided Cutis laxa with osteodystrophy
Variation	info
Gene	ATP6V0A2
CLNDBN	not provided Cutis laxa with osteodystrophy
Reversed	0
HGVS	NC_000012.11:g.124229332G>A
CLNSRC	HGMD
CLNACC	RCV000081546.3, RCV000174367.1,