rs59151893
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs59151893(A;G) |
Make rs59151893(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41624235 |
Gene | KRT17 |
is a | snp |
is | mentioned by |
dbSNP | rs59151893 |
dbSNP (classic) | rs59151893 |
ClinGen | rs59151893 |
ebi | rs59151893 |
HLI | rs59151893 |
Exac | rs59151893 |
Gnomad | rs59151893 |
Varsome | rs59151893 |
LitVar | rs59151893 |
Map | rs59151893 |
PheGenI | rs59151893 |
Biobank | rs59151893 |
1000 genomes | rs59151893 |
hgdp | rs59151893 |
ensembl | rs59151893 |
geneview | rs59151893 |
scholar | rs59151893 |
rs59151893 | |
pharmgkb | rs59151893 |
gwascentral | rs59151893 |
openSNP | rs59151893 |
23andMe | rs59151893 |
SNPshot | rs59151893 |
SNPdbe | rs59151893 |
MSV3d | rs59151893 |
GWAS Ctlg | rs59151893 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59151893(G;G) |
Alt | rs59151893(G;G) |
Reference | Rs59151893(A;A) |
Significance | Pathogenic |
Disease | Pachyonychia congenita type 2 not provided |
Variation | info |
Gene | KRT17 |
CLNDBN | Pachyonychia congenita type 2 not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39780487T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015689.27, RCV000056512.2, |