rs1060500608
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGT;CAGT) | 0 | common in clinvar |
Make rs1060500608(-;-) |
Make rs1060500608(-;AGTC) |
Make rs1060500608(AGTC;AGTC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 7582942 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs1060500608 |
dbSNP (classic) | rs1060500608 |
ClinGen | rs1060500608 |
ebi | rs1060500608 |
HLI | rs1060500608 |
Exac | rs1060500608 |
Gnomad | rs1060500608 |
Varsome | rs1060500608 |
LitVar | rs1060500608 |
Map | rs1060500608 |
PheGenI | rs1060500608 |
Biobank | rs1060500608 |
1000 genomes | rs1060500608 |
hgdp | rs1060500608 |
ensembl | rs1060500608 |
geneview | rs1060500608 |
scholar | rs1060500608 |
rs1060500608 | |
pharmgkb | rs1060500608 |
gwascentral | rs1060500608 |
openSNP | rs1060500608 |
23andMe | rs1060500608 |
SNPshot | rs1060500608 |
SNPdbe | rs1060500608 |
MSV3d | rs1060500608 |
GWAS Ctlg | rs1060500608 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500608(-;-) |
Alt | rs1060500608(-;-) |
Reference | Rs1060500608(CAGT;CAGT) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSP |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 8 |
Reversed | 0 |
HGVS | NC_000006.11:g.7583175_7583178delAGTC |
CLNSRC | |
CLNACC | RCV000458285.1, |