rs104894189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894189(C;T) |
Make rs104894189(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 78035394 |
Gene | RPS24 |
is a | snp |
is | mentioned by |
dbSNP | rs104894189 |
dbSNP (classic) | rs104894189 |
ClinGen | rs104894189 |
ebi | rs104894189 |
HLI | rs104894189 |
Exac | rs104894189 |
Gnomad | rs104894189 |
Varsome | rs104894189 |
LitVar | rs104894189 |
Map | rs104894189 |
PheGenI | rs104894189 |
Biobank | rs104894189 |
1000 genomes | rs104894189 |
hgdp | rs104894189 |
ensembl | rs104894189 |
geneview | rs104894189 |
scholar | rs104894189 |
rs104894189 | |
pharmgkb | rs104894189 |
gwascentral | rs104894189 |
openSNP | rs104894189 |
23andMe | rs104894189 |
SNPshot | rs104894189 |
SNPdbe | rs104894189 |
MSV3d | rs104894189 |
GWAS Ctlg | rs104894189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894189(T;T) |
Alt | rs104894189(T;T) |
Reference | Rs104894189(C;C) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 3 |
Variation | info |
Gene | RPS24 |
CLNDBN | Diamond-Blackfan anemia 3 |
Reversed | 0 |
HGVS | NC_000010.10:g.79795152C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007668.3, |