rs730880320
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs730880320(-;-) |
Make rs730880320(-;CT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 136114911 |
Gene | CXCR4 |
is a | snp |
is | mentioned by |
dbSNP | rs730880320 |
dbSNP (classic) | rs730880320 |
ClinGen | rs730880320 |
ebi | rs730880320 |
HLI | rs730880320 |
Exac | rs730880320 |
Gnomad | rs730880320 |
Varsome | rs730880320 |
LitVar | rs730880320 |
Map | rs730880320 |
PheGenI | rs730880320 |
Biobank | rs730880320 |
1000 genomes | rs730880320 |
hgdp | rs730880320 |
ensembl | rs730880320 |
geneview | rs730880320 |
scholar | rs730880320 |
rs730880320 | |
pharmgkb | rs730880320 |
gwascentral | rs730880320 |
openSNP | rs730880320 |
23andMe | rs730880320 |
SNPshot | rs730880320 |
SNPdbe | rs730880320 |
MSV3d | rs730880320 |
GWAS Ctlg | rs730880320 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880320(-;-) |
Alt | rs730880320(-;-) |
Reference | Rs730880320(CT;CT) |
Significance | Pathogenic |
Disease | Warts |
Variation | info |
Gene | CXCR4 |
CLNDBN | Warts, hypogammaglobulinemia, infections, and myelokathexis |
Reversed | 1 |
HGVS | NC_000002.11:g.136872481_136872482delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015065.22, |