rs587780840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs587780840(-;-) |
Make rs587780840(-;CA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 58692740 |
Gene | RAD51C, TEX14 |
is a | snp |
is | mentioned by |
dbSNP | rs587780840 |
dbSNP (classic) | rs587780840 |
ClinGen | rs587780840 |
ebi | rs587780840 |
HLI | rs587780840 |
Exac | rs587780840 |
Gnomad | rs587780840 |
Varsome | rs587780840 |
LitVar | rs587780840 |
Map | rs587780840 |
PheGenI | rs587780840 |
Biobank | rs587780840 |
1000 genomes | rs587780840 |
hgdp | rs587780840 |
ensembl | rs587780840 |
geneview | rs587780840 |
scholar | rs587780840 |
rs587780840 | |
pharmgkb | rs587780840 |
gwascentral | rs587780840 |
openSNP | rs587780840 |
23andMe | rs587780840 |
SNPshot | rs587780840 |
SNPdbe | rs587780840 |
MSV3d | rs587780840 |
GWAS Ctlg | rs587780840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780840(-;-) |
Alt | rs587780840(-;-) |
Reference | Rs587780840(CA;CA) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | TEX14 RAD51C |
CLNDBN | Fanconi anemia, complementation group O |
Reversed | 0 |
HGVS | NC_000017.10:g.56770101_56770102delCA |
CLNSRC | |
CLNACC | RCV000123379.1, |