rs398124257

Orientation

plus

Stabilized

plus

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

Make rs398124257(C;C)

Make rs398124257(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123735626

Gene

ATP6V0A2

is a	snp
is	mentioned by
dbSNP	rs398124257
dbSNP (classic)	rs398124257
ClinGen	rs398124257
ebi	rs398124257
HLI	rs398124257
Exac	rs398124257
Gnomad	rs398124257
Varsome	rs398124257
LitVar	rs398124257
Map	rs398124257
PheGenI	rs398124257
Biobank	rs398124257
1000 genomes	rs398124257
hgdp	rs398124257
ensembl	rs398124257
geneview	rs398124257
scholar	rs398124257
google	rs398124257
pharmgkb	rs398124257
gwascentral	rs398124257
openSNP	rs398124257
23andMe	rs398124257
SNPshot	rs398124257
SNPdbe	rs398124257
MSV3d	rs398124257
GWAS Ctlg	rs398124257

Max Magnitude

0

ClinVar
Risk	rs398124257(C;C)
Alt	rs398124257(C;C)
Reference	Rs398124257(T;T)
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.124220173T>C
CLNSRC	ClinVar
CLNACC	RCV000081554.3, RCV000180309.1,