rs397507440
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 4.4 | Hereditary pancreatitis |
(T;T) | 0 | common in clinvar |
Make rs397507440(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 142751988 |
Gene | PRSS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507440 |
dbSNP (classic) | rs397507440 |
ClinGen | rs397507440 |
ebi | rs397507440 |
HLI | rs397507440 |
Exac | rs397507440 |
Gnomad | rs397507440 |
Varsome | rs397507440 |
LitVar | rs397507440 |
Map | rs397507440 |
PheGenI | rs397507440 |
Biobank | rs397507440 |
1000 genomes | rs397507440 |
hgdp | rs397507440 |
ensembl | rs397507440 |
geneview | rs397507440 |
scholar | rs397507440 |
rs397507440 | |
pharmgkb | rs397507440 |
gwascentral | rs397507440 |
openSNP | rs397507440 |
23andMe | rs397507440 |
SNPshot | rs397507440 |
SNPdbe | rs397507440 |
MSV3d | rs397507440 |
GWAS Ctlg | rs397507440 |
Max Magnitude | 4.4 |
aka c.415T>A, p.Cys139Ser and C139S
ClinVar | |
---|---|
Risk | rs397507440(A;A) |
Alt | rs397507440(A;A) |
Reference | Rs397507440(T;T) |
Significance | Pathogenic |
Disease | Hereditary pancreatitis |
Variation | info |
Gene | PRSS1 |
CLNDBN | Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000007.13:g.142459839T>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031919.1, |