rs111033568
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 4.4 | Hereditary pancreatitis |
Make rs111033568(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 142751937 |
Gene | PRSS1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033568 |
dbSNP (classic) | rs111033568 |
ClinGen | rs111033568 |
ebi | rs111033568 |
HLI | rs111033568 |
Exac | rs111033568 |
Gnomad | rs111033568 |
Varsome | rs111033568 |
LitVar | rs111033568 |
Map | rs111033568 |
PheGenI | rs111033568 |
Biobank | rs111033568 |
1000 genomes | rs111033568 |
hgdp | rs111033568 |
ensembl | rs111033568 |
geneview | rs111033568 |
scholar | rs111033568 |
rs111033568 | |
pharmgkb | rs111033568 |
gwascentral | rs111033568 |
openSNP | rs111033568 |
23andMe | rs111033568 |
SNPshot | rs111033568 |
SNPdbe | rs111033568 |
MSV3d | rs111033568 |
GWAS Ctlg | rs111033568 |
Max Magnitude | 4.4 |
aka c.364C>T, p.Arg122Cys and R122C
23andMe name: i5005352
ClinVar | |
---|---|
Risk | rs111033568(T;T) |
Alt | rs111033568(T;T) |
Reference | Rs111033568(C;C) |
Significance | Pathogenic |
Disease | Hereditary pancreatitis |
Variation | info |
Gene | PRSS1 |
CLNDBN | Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000007.13:g.142459788C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012658.23, |