rs28928899
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28928899(A;A) |
Make rs28928899(A;C) |
Make rs28928899(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41624226 |
Gene | KRT17 |
is a | snp |
is | mentioned by |
dbSNP | rs28928899 |
dbSNP (classic) | rs28928899 |
ClinGen | rs28928899 |
ebi | rs28928899 |
HLI | rs28928899 |
Exac | rs28928899 |
Gnomad | rs28928899 |
Varsome | rs28928899 |
LitVar | rs28928899 |
Map | rs28928899 |
PheGenI | rs28928899 |
Biobank | rs28928899 |
1000 genomes | rs28928899 |
hgdp | rs28928899 |
ensembl | rs28928899 |
geneview | rs28928899 |
scholar | rs28928899 |
rs28928899 | |
pharmgkb | rs28928899 |
gwascentral | rs28928899 |
openSNP | rs28928899 |
23andMe | rs28928899 |
SNPshot | rs28928899 |
SNPdbe | rs28928899 |
MSV3d | rs28928899 |
GWAS Ctlg | rs28928899 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28928899(A;A) rs28928899(C;C) |
Alt | rs28928899(A;A) rs28928899(C;C) |
Reference | Rs28928899(T;T) |
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.39780478A>G; NC_000017.10:g.39780478A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015700.27, RCV000056518.2, RCV000015699.23, RCV000056517.1, |