rs587777545
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777545(A;C) |
Make rs587777545(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 52552656 |
Gene | KRT71 |
is a | snp |
is | mentioned by |
dbSNP | rs587777545 |
dbSNP (classic) | rs587777545 |
ClinGen | rs587777545 |
ebi | rs587777545 |
HLI | rs587777545 |
Exac | rs587777545 |
Gnomad | rs587777545 |
Varsome | rs587777545 |
LitVar | rs587777545 |
Map | rs587777545 |
PheGenI | rs587777545 |
Biobank | rs587777545 |
1000 genomes | rs587777545 |
hgdp | rs587777545 |
ensembl | rs587777545 |
geneview | rs587777545 |
scholar | rs587777545 |
rs587777545 | |
pharmgkb | rs587777545 |
gwascentral | rs587777545 |
openSNP | rs587777545 |
23andMe | rs587777545 |
SNPshot | rs587777545 |
SNPdbe | rs587777545 |
MSV3d | rs587777545 |
GWAS Ctlg | rs587777545 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777545(A;A) rs587777545(C;C) |
Alt | Rs587777545(A;A) rs587777545(C;C) |
Reference | Rs587777545(T;T) |
Significance | Pathogenic |
Disease | Hypotrichosis 13 |
Variation | info |
Gene | KRT71 |
CLNDBN | Hypotrichosis 13 |
Reversed | 1 |
HGVS | NC_000012.11:g.52946440A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000128639.3, |