rs113994177
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in complete genomics |
Make rs113994177(-;-) |
Make rs113994177(-;TG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41757422 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs113994177 |
dbSNP (classic) | rs113994177 |
ClinGen | rs113994177 |
ebi | rs113994177 |
HLI | rs113994177 |
Exac | rs113994177 |
Gnomad | rs113994177 |
Varsome | rs113994177 |
LitVar | rs113994177 |
Map | rs113994177 |
PheGenI | rs113994177 |
Biobank | rs113994177 |
1000 genomes | rs113994177 |
hgdp | rs113994177 |
ensembl | rs113994177 |
geneview | rs113994177 |
scholar | rs113994177 |
rs113994177 | |
pharmgkb | rs113994177 |
gwascentral | rs113994177 |
openSNP | rs113994177 |
23andMe | rs113994177 |
SNPshot | rs113994177 |
SNPdbe | rs113994177 |
MSV3d | rs113994177 |
GWAS Ctlg | rs113994177 |
Max Magnitude | 0 |
[PMID 10902626] Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
ClinVar | |
---|---|
Risk | rs113994177(-;-) |
Alt | rs113994177(-;-) |
Reference | Rs113994177(TG;TG) |
Significance | Pathogenic |
Disease | Naxos disease not provided |
Variation | info |
Gene | JUP |
CLNDBN | Naxos disease not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39913674_39913675delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014569.21, RCV000481302.1, |