rs587777291
From SNPedia
Merged into | rs267607474 |
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAAG;CAAG) | 0 | common in clinvar |
(TTG;TTG) | 0 | common in clinvar |
Make rs587777291(-;-) |
Make rs587777291(-;TTG) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 52473220 |
Gene | KRT6C |
is a | snp |
is | mentioned by |
dbSNP | rs587777291 |
dbSNP (classic) | rs587777291 |
ClinGen | rs587777291 |
ebi | rs587777291 |
HLI | rs587777291 |
Exac | rs587777291 |
Gnomad | rs587777291 |
Varsome | rs587777291 |
LitVar | rs587777291 |
Map | rs587777291 |
PheGenI | rs587777291 |
Biobank | rs587777291 |
1000 genomes | rs587777291 |
hgdp | rs587777291 |
ensembl | rs587777291 |
geneview | rs587777291 |
scholar | rs587777291 |
rs587777291 | |
pharmgkb | rs587777291 |
gwascentral | rs587777291 |
openSNP | rs587777291 |
23andMe | rs587777291 |
SNPshot | rs587777291 |
SNPdbe | rs587777291 |
MSV3d | rs587777291 |
GWAS Ctlg | rs587777291 |
Status | Merged into rs267607474 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777291(TTGG;TTGG) rs587777291(G;G) |
Alt | rs587777291(TTGG;TTGG) rs587777291(G;G) |
Reference | Rs587777291(CAAG;CAAG) |
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, |