rs782460555
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs782460555(A;A) |
Make rs782460555(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 41771784 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs782460555 |
dbSNP (classic) | rs782460555 |
ClinGen | rs782460555 |
ebi | rs782460555 |
HLI | rs782460555 |
Exac | rs782460555 |
Gnomad | rs782460555 |
Varsome | rs782460555 |
LitVar | rs782460555 |
Map | rs782460555 |
PheGenI | rs782460555 |
Biobank | rs782460555 |
1000 genomes | rs782460555 |
hgdp | rs782460555 |
ensembl | rs782460555 |
geneview | rs782460555 |
scholar | rs782460555 |
rs782460555 | |
pharmgkb | rs782460555 |
gwascentral | rs782460555 |
openSNP | rs782460555 |
23andMe | rs782460555 |
SNPshot | rs782460555 |
SNPdbe | rs782460555 |
MSV3d | rs782460555 |
GWAS Ctlg | rs782460555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782460555(A;A) rs782460555(T;T) |
Alt | rs782460555(A;A) rs782460555(T;T) |
Reference | Rs782460555(G;G) |
Significance | Pathogenic |
Disease | not provided Naxos disease |
Variation | info |
Gene | JUP |
CLNDBN | not provided Naxos disease |
Reversed | 0 |
HGVS | NC_000017.10:g.39928036G>A; NC_000017.10:g.39928036G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000183480.1, RCV000194470.2, |