rs58608173
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs58608173(A;G) |
Make rs58608173(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 41612316 |
Gene | KRT16 |
is a | snp |
is | mentioned by |
dbSNP | rs58608173 |
dbSNP (classic) | rs58608173 |
ClinGen | rs58608173 |
ebi | rs58608173 |
HLI | rs58608173 |
Exac | rs58608173 |
Gnomad | rs58608173 |
Varsome | rs58608173 |
LitVar | rs58608173 |
Map | rs58608173 |
PheGenI | rs58608173 |
Biobank | rs58608173 |
1000 genomes | rs58608173 |
hgdp | rs58608173 |
ensembl | rs58608173 |
geneview | rs58608173 |
scholar | rs58608173 |
rs58608173 | |
pharmgkb | rs58608173 |
gwascentral | rs58608173 |
openSNP | rs58608173 |
23andMe | rs58608173 |
SNPshot | rs58608173 |
SNPdbe | rs58608173 |
MSV3d | rs58608173 |
GWAS Ctlg | rs58608173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58608173(G;G) |
Alt | rs58608173(G;G) |
Reference | Rs58608173(A;A) |
Significance | Pathogenic |
Disease | not provided Pachyonychia congenita |
Variation | info |
Gene | KRT16 |
CLNDBN | not provided Pachyonychia congenita, type 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.39768568T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000057036.2, RCV000144081.2, |