rs59977263
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs59977263(A;A) |
Make rs59977263(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41624206 |
Gene | KRT17 |
is a | snp |
is | mentioned by |
dbSNP | rs59977263 |
dbSNP (classic) | rs59977263 |
ClinGen | rs59977263 |
ebi | rs59977263 |
HLI | rs59977263 |
Exac | rs59977263 |
Gnomad | rs59977263 |
Varsome | rs59977263 |
LitVar | rs59977263 |
Map | rs59977263 |
PheGenI | rs59977263 |
Biobank | rs59977263 |
1000 genomes | rs59977263 |
hgdp | rs59977263 |
ensembl | rs59977263 |
geneview | rs59977263 |
scholar | rs59977263 |
rs59977263 | |
pharmgkb | rs59977263 |
gwascentral | rs59977263 |
openSNP | rs59977263 |
23andMe | rs59977263 |
SNPshot | rs59977263 |
SNPdbe | rs59977263 |
MSV3d | rs59977263 |
GWAS Ctlg | rs59977263 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59977263(A;A) |
Alt | rs59977263(A;A) |
Reference | Rs59977263(G;G) |
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.39780458C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015703.23, RCV000056524.1, |