rs111033564
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033564(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 142751808 |
Gene | PRSS1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033564 |
dbSNP (classic) | rs111033564 |
ClinGen | rs111033564 |
ebi | rs111033564 |
HLI | rs111033564 |
Exac | rs111033564 |
Gnomad | rs111033564 |
Varsome | rs111033564 |
LitVar | rs111033564 |
Map | rs111033564 |
PheGenI | rs111033564 |
Biobank | rs111033564 |
1000 genomes | rs111033564 |
hgdp | rs111033564 |
ensembl | rs111033564 |
geneview | rs111033564 |
scholar | rs111033564 |
rs111033564 | |
pharmgkb | rs111033564 |
gwascentral | rs111033564 |
openSNP | rs111033564 |
23andMe | rs111033564 |
SNPshot | rs111033564 |
SNPdbe | rs111033564 |
MSV3d | rs111033564 |
GWAS Ctlg | rs111033564 |
Merged from | Rs28934902 |
Max Magnitude | 0 |
aka c.235G>A, p.Glu79Lys and E79K
ClinVar | |
---|---|
Risk | rs111033564(A;A) |
Alt | rs111033564(A;A) |
Reference | Rs111033564(G;G) |
Significance | Pathogenic |
Disease | Hereditary pancreatitis |
Variation | info |
Gene | PRSS1 |
CLNDBN | Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000007.13:g.142459659G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012655.24, |