rs116840806
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common genotype |
(AAC;AAC) | 0 | common in clinvar |
Make rs116840806(AAC;TACGGATAG) |
Make rs116840806(TACGGATAG;TACGGATAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 78035352 |
Gene | RPS24 |
is a | snp |
is | mentioned by |
dbSNP | rs116840806 |
dbSNP (classic) | rs116840806 |
ClinGen | rs116840806 |
ebi | rs116840806 |
HLI | rs116840806 |
Exac | rs116840806 |
Gnomad | rs116840806 |
Varsome | rs116840806 |
LitVar | rs116840806 |
Map | rs116840806 |
PheGenI | rs116840806 |
Biobank | rs116840806 |
1000 genomes | rs116840806 |
hgdp | rs116840806 |
ensembl | rs116840806 |
geneview | rs116840806 |
scholar | rs116840806 |
rs116840806 | |
pharmgkb | rs116840806 |
gwascentral | rs116840806 |
openSNP | rs116840806 |
23andMe | rs116840806 |
SNPshot | rs116840806 |
SNPdbe | rs116840806 |
MSV3d | rs116840806 |
GWAS Ctlg | rs116840806 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116840806(TACGGATAG;TACGGATAG) |
Alt | rs116840806(TACGGATAG;TACGGATAG) |
Reference | Rs116840806(AAC;AAC) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 3 |
Variation | info |
Gene | RPS24 |
CLNDBN | Diamond-Blackfan anemia 3 |
Reversed | 0 |
HGVS | NC_000010.10:g.79795110_79795112delAACinsTACGGATAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007669.3, |