rs2852464
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2852464(C;G) |
Make rs2852464(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52316937 |
Gene | KRT83 |
is a | snp |
is | mentioned by |
dbSNP | rs2852464 |
dbSNP (classic) | rs2852464 |
ClinGen | rs2852464 |
ebi | rs2852464 |
HLI | rs2852464 |
Exac | rs2852464 |
Gnomad | rs2852464 |
Varsome | rs2852464 |
LitVar | rs2852464 |
Map | rs2852464 |
PheGenI | rs2852464 |
Biobank | rs2852464 |
1000 genomes | rs2852464 |
hgdp | rs2852464 |
ensembl | rs2852464 |
geneview | rs2852464 |
scholar | rs2852464 |
rs2852464 | |
pharmgkb | rs2852464 |
gwascentral | rs2852464 |
openSNP | rs2852464 |
23andMe | rs2852464 |
SNPshot | rs2852464 |
SNPdbe | rs2852464 |
MSV3d | rs2852464 |
GWAS Ctlg | rs2852464 |
GMAF | 0.3407 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2852464(G;G) rs2852464(T;T) |
Alt | rs2852464(G;G) rs2852464(T;T) |
Reference | Rs2852464(C;C) |
Significance | Non-pathogenic |
Disease | Beaded hair |
Variation | info |
Gene | KRT83 |
CLNDBN | Beaded hair |
Reversed | 1 |
HGVS | NC_000012.11:g.52710721G>C |
CLNSRC | |
CLNACC | RCV000285091.1, |