rs397507439
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 4.4 | Hereditary pancreatitis |
(T;T) | 0 | common in clinvar |
Make rs397507439(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 142750630 |
Gene | PRSS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507439 |
dbSNP (classic) | rs397507439 |
ClinGen | rs397507439 |
ebi | rs397507439 |
HLI | rs397507439 |
Exac | rs397507439 |
Gnomad | rs397507439 |
Varsome | rs397507439 |
LitVar | rs397507439 |
Map | rs397507439 |
PheGenI | rs397507439 |
Biobank | rs397507439 |
1000 genomes | rs397507439 |
hgdp | rs397507439 |
ensembl | rs397507439 |
geneview | rs397507439 |
scholar | rs397507439 |
rs397507439 | |
pharmgkb | rs397507439 |
gwascentral | rs397507439 |
openSNP | rs397507439 |
23andMe | rs397507439 |
SNPshot | rs397507439 |
SNPdbe | rs397507439 |
MSV3d | rs397507439 |
GWAS Ctlg | rs397507439 |
Max Magnitude | 4.4 |
aka c.116T>C, p.Val39Ala and V39A
ClinVar | |
---|---|
Risk | rs397507439(C;C) |
Alt | rs397507439(C;C) |
Reference | Rs397507439(T;T) |
Significance | Pathogenic |
Disease | Hereditary pancreatitis |
Variation | info |
Gene | PRSS1 |
CLNDBN | Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000007.13:g.142458481T>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031918.3, |