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rs367543007

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs367543007(-;-)
Make rs367543007(-;CA)
ReferenceGRCh38 38.1/141
Chromosome12
Position123754417
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs367543007
ebirs367543007
HLIrs367543007
Exacrs367543007
Varsomers367543007
Maprs367543007
PheGenIrs367543007
hapmaprs367543007
1000 genomesrs367543007
hgdprs367543007
ensemblrs367543007
gopubmedrs367543007
geneviewrs367543007
scholarrs367543007
googlers367543007
pharmgkbrs367543007
gwascentralrs367543007
openSNPrs367543007
23andMers367543007
23andMe allrs367543007
SNP Nexus

SNPshotrs367543007
SNPdbers367543007
MSV3drs367543007
GWAS Ctlgrs367543007
Max Magnitude0
ClinVar
Risk rs367543007(;)
Alt rs367543007(;)
Reference rs367543007(CA;CA)
Significance Pathogenic
Disease Cutis laxa with osteodystrophy
Variation info
Gene ATP6V0A2
CLNDBN Cutis laxa with osteodystrophy
Reversed 0
HGVS NC_000012.11:g.124238964_124238965delCA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020685.2,


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


[PMID 20301755] ATP6V0A2-Related Cutis Laxa