rs148954387
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs148954387(A;G) |
Make rs148954387(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 147828020 |
Gene | SPINK1 |
is a | snp |
is | mentioned by |
dbSNP | rs148954387 |
dbSNP (classic) | rs148954387 |
ClinGen | rs148954387 |
ebi | rs148954387 |
HLI | rs148954387 |
Exac | rs148954387 |
Gnomad | rs148954387 |
Varsome | rs148954387 |
LitVar | rs148954387 |
Map | rs148954387 |
PheGenI | rs148954387 |
Biobank | rs148954387 |
1000 genomes | rs148954387 |
hgdp | rs148954387 |
ensembl | rs148954387 |
geneview | rs148954387 |
scholar | rs148954387 |
rs148954387 | |
pharmgkb | rs148954387 |
gwascentral | rs148954387 |
openSNP | rs148954387 |
23andMe | rs148954387 |
SNPshot | rs148954387 |
SNPdbe | rs148954387 |
MSV3d | rs148954387 |
GWAS Ctlg | rs148954387 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148954387(G;G) rs148954387(T;T) |
Alt | rs148954387(G;G) rs148954387(T;T) |
Reference | Rs148954387(A;A) |
Significance | Pathogenic |
Disease | Hereditary pancreatitis |
Variation | info |
Gene | SPINK1 |
CLNDBN | Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000005.9:g.147207583A>G |
CLNSRC | ClinVar |
CLNACC | RCV000119031.4, |