rs148942765
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148942765(C;T) |
Make rs148942765(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 56043440 |
Gene | LOC105369780, RPS26 |
is a | snp |
is | mentioned by |
dbSNP | rs148942765 |
dbSNP (classic) | rs148942765 |
ClinGen | rs148942765 |
ebi | rs148942765 |
HLI | rs148942765 |
Exac | rs148942765 |
Gnomad | rs148942765 |
Varsome | rs148942765 |
LitVar | rs148942765 |
Map | rs148942765 |
PheGenI | rs148942765 |
Biobank | rs148942765 |
1000 genomes | rs148942765 |
hgdp | rs148942765 |
ensembl | rs148942765 |
geneview | rs148942765 |
scholar | rs148942765 |
rs148942765 | |
pharmgkb | rs148942765 |
gwascentral | rs148942765 |
openSNP | rs148942765 |
23andMe | rs148942765 |
SNPshot | rs148942765 |
SNPdbe | rs148942765 |
MSV3d | rs148942765 |
GWAS Ctlg | rs148942765 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148942765(A;A) rs148942765(T;T) |
Alt | rs148942765(A;A) rs148942765(T;T) |
Reference | Rs148942765(C;C) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
Variation | info |
Gene | RPS26 |
CLNDBN | Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
Reversed | 0 |
HGVS | NC_000012.11:g.56437224C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000167574.4, RCV000191914.1, |