rs672601344
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs672601344(-;T) |
Make rs672601344(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 63798671 |
Gene | SERPINB7 |
is a | snp |
is | mentioned by |
dbSNP | rs672601344 |
dbSNP (classic) | rs672601344 |
ClinGen | rs672601344 |
ebi | rs672601344 |
HLI | rs672601344 |
Exac | rs672601344 |
Gnomad | rs672601344 |
Varsome | rs672601344 |
LitVar | rs672601344 |
Map | rs672601344 |
PheGenI | rs672601344 |
Biobank | rs672601344 |
1000 genomes | rs672601344 |
hgdp | rs672601344 |
ensembl | rs672601344 |
geneview | rs672601344 |
scholar | rs672601344 |
rs672601344 | |
pharmgkb | rs672601344 |
gwascentral | rs672601344 |
openSNP | rs672601344 |
23andMe | rs672601344 |
SNPshot | rs672601344 |
SNPdbe | rs672601344 |
MSV3d | rs672601344 |
GWAS Ctlg | rs672601344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601344(T;T) |
Alt | rs672601344(T;T) |
Reference | Rs672601344(-;-) |
Significance | Pathogenic |
Disease | Palmoplantar keratoderma not provided |
Variation | info |
Gene | SERPINB7 |
CLNDBN | Palmoplantar keratoderma, nagashima type not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.61465905dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144910.3, RCV000486122.1, |