Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356750(C;T)
Make rs80356750(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position123718692
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356750
ebirs80356750
HLIrs80356750
Exacrs80356750
Varsomers80356750
Maprs80356750
PheGenIrs80356750
hapmaprs80356750
1000 genomesrs80356750
hgdprs80356750
ensemblrs80356750
gopubmedrs80356750
geneviewrs80356750
scholarrs80356750
googlers80356750
pharmgkbrs80356750
gwascentralrs80356750
openSNPrs80356750
23andMers80356750
23andMe allrs80356750
SNP Nexus

SNPshotrs80356750
SNPdbers80356750
MSV3drs80356750
GWAS Ctlgrs80356750
Max Magnitude0
OMIM611716
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356750(T;T)
Alt rs80356750(T;T)
Reference rs80356750(C;C)
Significance Pathogenic
Disease Cutis laxa with osteodystrophy not provided
Variation info
Gene ATP6V0A2
CLNDBN Cutis laxa with osteodystrophy not provided
Reversed 0
HGVS NC_000012.11:g.124203239C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000888.3, RCV000081548.3,


[PMID 15657616] Defective protein glycosylation in patients with cutis laxa syndrome.


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