rs121908649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908649(A;T) |
Make rs121908649(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41869108 |
Gene | MIR6797, RPS19 |
is a | snp |
is | mentioned by |
dbSNP | rs121908649 |
dbSNP (classic) | rs121908649 |
ClinGen | rs121908649 |
ebi | rs121908649 |
HLI | rs121908649 |
Exac | rs121908649 |
Gnomad | rs121908649 |
Varsome | rs121908649 |
LitVar | rs121908649 |
Map | rs121908649 |
PheGenI | rs121908649 |
Biobank | rs121908649 |
1000 genomes | rs121908649 |
hgdp | rs121908649 |
ensembl | rs121908649 |
geneview | rs121908649 |
scholar | rs121908649 |
rs121908649 | |
pharmgkb | rs121908649 |
gwascentral | rs121908649 |
openSNP | rs121908649 |
23andMe | rs121908649 |
SNPshot | rs121908649 |
SNPdbe | rs121908649 |
MSV3d | rs121908649 |
GWAS Ctlg | rs121908649 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908649(T;T) |
Alt | rs121908649(T;T) |
Reference | Rs121908649(A;A) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 1 |
Variation | info |
Gene | MIR6797 RPS19 |
CLNDBN | Diamond-Blackfan anemia 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.42373178A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033185.4, |