rs794729052
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794729052(A;G) |
Make rs794729052(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 41767515 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs794729052 |
dbSNP (classic) | rs794729052 |
ClinGen | rs794729052 |
ebi | rs794729052 |
HLI | rs794729052 |
Exac | rs794729052 |
Gnomad | rs794729052 |
Varsome | rs794729052 |
LitVar | rs794729052 |
Map | rs794729052 |
PheGenI | rs794729052 |
Biobank | rs794729052 |
1000 genomes | rs794729052 |
hgdp | rs794729052 |
ensembl | rs794729052 |
geneview | rs794729052 |
scholar | rs794729052 |
rs794729052 | |
pharmgkb | rs794729052 |
gwascentral | rs794729052 |
openSNP | rs794729052 |
23andMe | rs794729052 |
SNPshot | rs794729052 |
SNPdbe | rs794729052 |
MSV3d | rs794729052 |
GWAS Ctlg | rs794729052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729052(G;G) |
Alt | rs794729052(G;G) |
Reference | Rs794729052(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | JUP |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000017.10:g.39923767T>C |
CLNSRC | |
CLNACC | RCV000183508.3, |