rs782440692
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs782440692(C;T) |
Make rs782440692(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 41767494 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs782440692 |
dbSNP (classic) | rs782440692 |
ClinGen | rs782440692 |
ebi | rs782440692 |
HLI | rs782440692 |
Exac | rs782440692 |
Gnomad | rs782440692 |
Varsome | rs782440692 |
LitVar | rs782440692 |
Map | rs782440692 |
PheGenI | rs782440692 |
Biobank | rs782440692 |
1000 genomes | rs782440692 |
hgdp | rs782440692 |
ensembl | rs782440692 |
geneview | rs782440692 |
scholar | rs782440692 |
rs782440692 | |
pharmgkb | rs782440692 |
gwascentral | rs782440692 |
openSNP | rs782440692 |
23andMe | rs782440692 |
SNPshot | rs782440692 |
SNPdbe | rs782440692 |
MSV3d | rs782440692 |
GWAS Ctlg | rs782440692 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782440692(T;T) |
Alt | rs782440692(T;T) |
Reference | Rs782440692(C;C) |
Significance | Pathogenic |
Disease | Naxos disease |
Variation | info |
Gene | JUP |
CLNDBN | Naxos disease |
Reversed | 0 |
HGVS | NC_000017.10:g.39923746C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000194635.2, |