rs1064792966
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTCTGCATGT;TTCTGCATGT) | 0 | common in clinvar |
Chromosome | 17 |
Position | 58734148 |
Gene | LOC105371843, RAD51C |
is a | snp |
is | mentioned by |
dbSNP | rs1064792966 |
dbSNP (classic) | rs1064792966 |
ClinGen | rs1064792966 |
ebi | rs1064792966 |
HLI | rs1064792966 |
Exac | rs1064792966 |
Gnomad | rs1064792966 |
Varsome | rs1064792966 |
LitVar | rs1064792966 |
Map | rs1064792966 |
PheGenI | rs1064792966 |
Biobank | rs1064792966 |
1000 genomes | rs1064792966 |
hgdp | rs1064792966 |
ensembl | rs1064792966 |
geneview | rs1064792966 |
scholar | rs1064792966 |
rs1064792966 | |
pharmgkb | rs1064792966 |
gwascentral | rs1064792966 |
openSNP | rs1064792966 |
23andMe | rs1064792966 |
SNPshot | rs1064792966 |
SNPdbe | rs1064792966 |
MSV3d | rs1064792966 |
GWAS Ctlg | rs1064792966 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792966(-;-) |
Alt | rs1064792966(-;-) |
Reference | Rs1064792966(TTCTGCATGT;TTCTGCATGT) |
Significance | Probable-Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | RAD51C |
CLNDBN | Fanconi anemia, complementation group O |
Reversed | 0 |
HGVS | NC_000017.10:g.56811509_56811518delTCTGCATGTT |
CLNSRC | |
CLNACC | RCV000456930.1, |