rs142859678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs142859678(C;T) |
Make rs142859678(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 63804288 |
Gene | SERPINB7 |
is a | snp |
is | mentioned by |
dbSNP | rs142859678 |
dbSNP (classic) | rs142859678 |
ClinGen | rs142859678 |
ebi | rs142859678 |
HLI | rs142859678 |
Exac | rs142859678 |
Gnomad | rs142859678 |
Varsome | rs142859678 |
LitVar | rs142859678 |
Map | rs142859678 |
PheGenI | rs142859678 |
Biobank | rs142859678 |
1000 genomes | rs142859678 |
hgdp | rs142859678 |
ensembl | rs142859678 |
geneview | rs142859678 |
scholar | rs142859678 |
rs142859678 | |
pharmgkb | rs142859678 |
gwascentral | rs142859678 |
openSNP | rs142859678 |
23andMe | rs142859678 |
SNPshot | rs142859678 |
SNPdbe | rs142859678 |
MSV3d | rs142859678 |
GWAS Ctlg | rs142859678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142859678(T;T) |
Alt | rs142859678(T;T) |
Reference | Rs142859678(C;C) |
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.61471522C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000088682.3, RCV000479535.1, |