rs267607474
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAA;CAA) | 0 | common in clinvar |
Make rs267607474(-;-) |
Make rs267607474(-;CAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 52473223 |
Gene | KRT6C, LOC107984511 |
is a | snp |
is | mentioned by |
dbSNP | rs267607474 |
dbSNP (classic) | rs267607474 |
ClinGen | rs267607474 |
ebi | rs267607474 |
HLI | rs267607474 |
Exac | rs267607474 |
Gnomad | rs267607474 |
Varsome | rs267607474 |
LitVar | rs267607474 |
Map | rs267607474 |
PheGenI | rs267607474 |
Biobank | rs267607474 |
1000 genomes | rs267607474 |
hgdp | rs267607474 |
ensembl | rs267607474 |
geneview | rs267607474 |
scholar | rs267607474 |
rs267607474 | |
pharmgkb | rs267607474 |
gwascentral | rs267607474 |
openSNP | rs267607474 |
23andMe | rs267607474 |
SNPshot | rs267607474 |
SNPdbe | rs267607474 |
MSV3d | rs267607474 |
GWAS Ctlg | rs267607474 |
Merged from | Rs587777291 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607474(-;-) |
Alt | rs267607474(-;-) |
Reference | Rs267607474(CAA;CAA) |
Significance | Pathogenic |
Disease | not provided Palmoplantar keratoderma |
Variation | info |
Gene | KRT6C |
CLNDBN | not provided Palmoplantar keratoderma, nonepidermolytic, focal |
Reversed | 1 |
HGVS | NC_000012.11:g.52867004_52867006delTTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057500.1, RCV000114416.2, |