rs2229089
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2229089(C;T) |
Make rs2229089(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 14173024 |
Gene | XPC |
is a | snp |
is | mentioned by |
dbSNP | rs2229089 |
dbSNP (classic) | rs2229089 |
ClinGen | rs2229089 |
ebi | rs2229089 |
HLI | rs2229089 |
Exac | rs2229089 |
Gnomad | rs2229089 |
Varsome | rs2229089 |
LitVar | rs2229089 |
Map | rs2229089 |
PheGenI | rs2229089 |
Biobank | rs2229089 |
1000 genomes | rs2229089 |
hgdp | rs2229089 |
ensembl | rs2229089 |
geneview | rs2229089 |
scholar | rs2229089 |
rs2229089 | |
pharmgkb | rs2229089 |
gwascentral | rs2229089 |
openSNP | rs2229089 |
23andMe | rs2229089 |
SNPshot | rs2229089 |
SNPdbe | rs2229089 |
MSV3d | rs2229089 |
GWAS Ctlg | rs2229089 |
Max Magnitude | 0 |
[PMID 28146470] Rare and low-frequency coding variants alter human adult height.
ClinVar | |
---|---|
Risk | rs2229089(T;T) |
Alt | rs2229089(T;T) |
Reference | Rs2229089(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Xeroderma pigmentosum |
Variation | info |
Gene | XPC |
CLNDBN | not specified Xeroderma pigmentosum |
Reversed | 1 |
HGVS | NC_000003.11:g.14214524G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000122333.1, RCV000348650.1, |