rs193922659
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922659(-;-) |
Make rs193922659(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 147831551 |
Gene | SPINK1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922659 |
dbSNP (classic) | rs193922659 |
ClinGen | rs193922659 |
ebi | rs193922659 |
HLI | rs193922659 |
Exac | rs193922659 |
Gnomad | rs193922659 |
Varsome | rs193922659 |
LitVar | rs193922659 |
Map | rs193922659 |
PheGenI | rs193922659 |
Biobank | rs193922659 |
1000 genomes | rs193922659 |
hgdp | rs193922659 |
ensembl | rs193922659 |
geneview | rs193922659 |
scholar | rs193922659 |
rs193922659 | |
pharmgkb | rs193922659 |
gwascentral | rs193922659 |
openSNP | rs193922659 |
23andMe | rs193922659 |
SNPshot | rs193922659 |
SNPdbe | rs193922659 |
MSV3d | rs193922659 |
GWAS Ctlg | rs193922659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922659(-;-) |
Alt | rs193922659(-;-) |
Reference | Rs193922659(C;C) |
Significance | Pathogenic |
Disease | Hereditary pancreatitis |
Variation | info |
Gene | SPINK1 |
CLNDBN | Hereditary pancreatitis |
Reversed | 1 |
HGVS | NC_000005.9:g.147211114delG |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030460.4, |
[PMID 14722925] Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
[PMID 16823394] Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
[PMID 16981266] Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.
[PMID 17274009] Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
[PMID 17568390] Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.