rs577442939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs577442939(A;A) |
Make rs577442939(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 63798603 |
Gene | SERPINB7 |
is a | snp |
is | mentioned by |
dbSNP | rs577442939 |
dbSNP (classic) | rs577442939 |
ClinGen | rs577442939 |
ebi | rs577442939 |
HLI | rs577442939 |
Exac | rs577442939 |
Gnomad | rs577442939 |
Varsome | rs577442939 |
LitVar | rs577442939 |
Map | rs577442939 |
PheGenI | rs577442939 |
Biobank | rs577442939 |
1000 genomes | rs577442939 |
hgdp | rs577442939 |
ensembl | rs577442939 |
geneview | rs577442939 |
scholar | rs577442939 |
rs577442939 | |
pharmgkb | rs577442939 |
gwascentral | rs577442939 |
openSNP | rs577442939 |
23andMe | rs577442939 |
SNPshot | rs577442939 |
SNPdbe | rs577442939 |
MSV3d | rs577442939 |
GWAS Ctlg | rs577442939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs577442939(A;A) |
Alt | rs577442939(A;A) |
Reference | Rs577442939(G;G) |
Significance | Pathogenic |
Disease | Palmoplantar keratoderma |
Variation | info |
Gene | SERPINB7 |
CLNDBN | Palmoplantar keratoderma, nagashima type |
Reversed | 0 |
HGVS | NC_000018.9:g.61465837G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000088684.4, |