rs641615
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs641615(A;A) |
Make rs641615(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52519125 |
Gene | KRT5 |
is a | snp |
is | mentioned by |
dbSNP | rs641615 |
dbSNP (classic) | rs641615 |
ClinGen | rs641615 |
ebi | rs641615 |
HLI | rs641615 |
Exac | rs641615 |
Gnomad | rs641615 |
Varsome | rs641615 |
LitVar | rs641615 |
Map | rs641615 |
PheGenI | rs641615 |
Biobank | rs641615 |
1000 genomes | rs641615 |
hgdp | rs641615 |
ensembl | rs641615 |
geneview | rs641615 |
scholar | rs641615 |
rs641615 | |
pharmgkb | rs641615 |
gwascentral | rs641615 |
openSNP | rs641615 |
23andMe | rs641615 |
SNPshot | rs641615 |
SNPdbe | rs641615 |
MSV3d | rs641615 |
GWAS Ctlg | rs641615 |
GMAF | 0.253 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs641615(A;A) rs641615(G;G) |
Alt | rs641615(A;A) rs641615(G;G) |
Reference | Rs641615(C;C) |
Significance | Non-pathogenic |
Disease | not provided not specified Epidermolysis bullosa simplex |
Variation | info |
Gene | KRT5 |
CLNDBN | not provided not specified Epidermolysis bullosa simplex |
Reversed | 1 |
HGVS | NC_000012.11:g.52912909G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056634.1, RCV000250318.1, RCV000327778.1, |