rs794727187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAAA;GAAA) | 0 | common in clinvar |
Make rs794727187(-;-) |
Make rs794727187(-;AAGA) |
Make rs794727187(AAGA;AAGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11449285 |
Gene | PRKCSH |
is a | snp |
is | mentioned by |
dbSNP | rs794727187 |
dbSNP (classic) | rs794727187 |
ClinGen | rs794727187 |
ebi | rs794727187 |
HLI | rs794727187 |
Exac | rs794727187 |
Gnomad | rs794727187 |
Varsome | rs794727187 |
LitVar | rs794727187 |
Map | rs794727187 |
PheGenI | rs794727187 |
Biobank | rs794727187 |
1000 genomes | rs794727187 |
hgdp | rs794727187 |
ensembl | rs794727187 |
geneview | rs794727187 |
scholar | rs794727187 |
rs794727187 | |
pharmgkb | rs794727187 |
gwascentral | rs794727187 |
openSNP | rs794727187 |
23andMe | rs794727187 |
SNPshot | rs794727187 |
SNPdbe | rs794727187 |
MSV3d | rs794727187 |
GWAS Ctlg | rs794727187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727187(-;-) |
Alt | rs794727187(-;-) |
Reference | Rs794727187(GAAA;GAAA) |
Significance | Pathogenic |
Disease | Congenital cystic disease of liver |
Variation | info |
Gene | PRKCSH |
CLNDBN | Congenital cystic disease of liver |
Reversed | 0 |
HGVS | NC_000019.9:g.11560100_11560103delAAGA |
CLNSRC | |
CLNACC | RCV000175169.1, |