rs104893624
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893624(C;T) |
Make rs104893624(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 136114928 |
Gene | CXCR4 |
is a | snp |
is | mentioned by |
dbSNP | rs104893624 |
dbSNP (classic) | rs104893624 |
ClinGen | rs104893624 |
ebi | rs104893624 |
HLI | rs104893624 |
Exac | rs104893624 |
Gnomad | rs104893624 |
Varsome | rs104893624 |
LitVar | rs104893624 |
Map | rs104893624 |
PheGenI | rs104893624 |
Biobank | rs104893624 |
1000 genomes | rs104893624 |
hgdp | rs104893624 |
ensembl | rs104893624 |
geneview | rs104893624 |
scholar | rs104893624 |
rs104893624 | |
pharmgkb | rs104893624 |
gwascentral | rs104893624 |
openSNP | rs104893624 |
23andMe | rs104893624 |
SNPshot | rs104893624 |
SNPdbe | rs104893624 |
MSV3d | rs104893624 |
GWAS Ctlg | rs104893624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893624(T;T) |
Alt | rs104893624(T;T) |
Reference | Rs104893624(C;C) |
Significance | Pathogenic |
Disease | Warts Myelokathexis |
Variation | info |
Gene | CXCR4 |
CLNDBN | Warts, hypogammaglobulinemia, infections, and myelokathexis Myelokathexis, isolated |
Reversed | 1 |
HGVS | NC_000002.11:g.136872498G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015063.22, RCV000015064.26, |