rs397507441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TGACAAGAT) | 4.4 | Hereditary pancreatitis |
Make rs397507441(TGACAAGAT;TGACAAGAT) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 142750585 |
Gene | PRSS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507441 |
dbSNP (classic) | rs397507441 |
ClinGen | rs397507441 |
ebi | rs397507441 |
HLI | rs397507441 |
Exac | rs397507441 |
Gnomad | rs397507441 |
Varsome | rs397507441 |
LitVar | rs397507441 |
Map | rs397507441 |
PheGenI | rs397507441 |
Biobank | rs397507441 |
1000 genomes | rs397507441 |
hgdp | rs397507441 |
ensembl | rs397507441 |
geneview | rs397507441 |
scholar | rs397507441 |
rs397507441 | |
pharmgkb | rs397507441 |
gwascentral | rs397507441 |
openSNP | rs397507441 |
23andMe | rs397507441 |
SNPshot | rs397507441 |
SNPdbe | rs397507441 |
MSV3d | rs397507441 |
GWAS Ctlg | rs397507441 |
Max Magnitude | 4.4 |
aka c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle)
ClinVar | |
---|---|
Risk | rs397507441(TGACAAGAT;TGACAAGAT) |
Alt | rs397507441(TGACAAGAT;TGACAAGAT) |
Reference | Rs397507441(-;-) |
Significance | Pathogenic |
Disease | Hereditary pancreatitis |
Variation | info |
Gene | PRSS1 |
CLNDBN | Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000007.13:g.142458428_142458436dupTGACAAGAT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031921.1, |