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rs80356752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs80356752(-;-)
Make rs80356752(-;TG)
ReferenceGRCh38 38.1/141
Chromosome12
Position123724712
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356752
ebirs80356752
HLIrs80356752
Exacrs80356752
Varsomers80356752
Maprs80356752
PheGenIrs80356752
hapmaprs80356752
1000 genomesrs80356752
hgdprs80356752
ensemblrs80356752
gopubmedrs80356752
geneviewrs80356752
scholarrs80356752
googlers80356752
pharmgkbrs80356752
gwascentralrs80356752
openSNPrs80356752
23andMers80356752
23andMe allrs80356752
SNP Nexus

SNPshotrs80356752
SNPdbers80356752
MSV3drs80356752
GWAS Ctlgrs80356752
Max Magnitude0
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.