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rs144263721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144263721(C;C)
Make rs144263721(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position7583581
GeneDSP
is asnp
is mentioned by
dbSNPrs144263721
dbSNP (classic)rs144263721
ClinGenrs144263721
ebirs144263721
HLIrs144263721
Exacrs144263721
Gnomadrs144263721
Varsomers144263721
LitVarrs144263721
Maprs144263721
PheGenIrs144263721
Biobankrs144263721
1000 genomesrs144263721
hgdprs144263721
ensemblrs144263721
geneviewrs144263721
scholarrs144263721
googlers144263721
pharmgkbrs144263721
gwascentralrs144263721
openSNPrs144263721
23andMers144263721
SNPshotrs144263721
SNPdbers144263721
MSV3drs144263721
GWAS Ctlgrs144263721
Max Magnitude0
ClinVar
Risk rs144263721(C;C)
Alt rs144263721(C;C)
Reference Rs144263721(G;G)
Significance Pathogenic
Disease not specified Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma
Variation info
Gene DSP
CLNDBN not specified Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma
Reversed 0
HGVS NC_000006.11:g.7583814G>C
CLNSRC
CLNACC RCV000181388.3, RCV000472720.1,