rs483352927
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGGAAACCACTTGGTTA;AGGAAACCACTTGGTTA) | 0 | common in clinvar |
Make rs483352927(-;-) |
Make rs483352927(-;GAAACCACTTGGTTAAG) |
Make rs483352927(GAAACCACTTGGTTAAG;GAAACCACTTGGTTAAG) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 118349743 |
Gene | CD3G |
is a | snp |
is | mentioned by |
dbSNP | rs483352927 |
dbSNP (classic) | rs483352927 |
ClinGen | rs483352927 |
ebi | rs483352927 |
HLI | rs483352927 |
Exac | rs483352927 |
Gnomad | rs483352927 |
Varsome | rs483352927 |
LitVar | rs483352927 |
Map | rs483352927 |
PheGenI | rs483352927 |
Biobank | rs483352927 |
1000 genomes | rs483352927 |
hgdp | rs483352927 |
ensembl | rs483352927 |
geneview | rs483352927 |
scholar | rs483352927 |
rs483352927 | |
pharmgkb | rs483352927 |
gwascentral | rs483352927 |
openSNP | rs483352927 |
23andMe | rs483352927 |
SNPshot | rs483352927 |
SNPdbe | rs483352927 |
MSV3d | rs483352927 |
GWAS Ctlg | rs483352927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352927(-;-) |
Alt | rs483352927(-;-) |
Reference | Rs483352927(AGGAAACCACTTGGTTA;AGGAAACCACTTGGTTA) |
Significance | Pathogenic |
Disease | Immunodeficiency 17 |
Variation | info |
Gene | CD3G |
CLNDBN | Immunodeficiency 17 |
Reversed | 0 |
HGVS | NC_000011.9:g.118220458_118220474del17 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087022.4, |