rs1060503075
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCTC;CCTC) | 0 | common in clinvar |
Make rs1060503075(-;-) |
Make rs1060503075(-;CCTC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 48463818 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503075 |
dbSNP (classic) | rs1060503075 |
ClinGen | rs1060503075 |
ebi | rs1060503075 |
HLI | rs1060503075 |
Exac | rs1060503075 |
Gnomad | rs1060503075 |
Varsome | rs1060503075 |
LitVar | rs1060503075 |
Map | rs1060503075 |
PheGenI | rs1060503075 |
Biobank | rs1060503075 |
1000 genomes | rs1060503075 |
hgdp | rs1060503075 |
ensembl | rs1060503075 |
geneview | rs1060503075 |
scholar | rs1060503075 |
rs1060503075 | |
pharmgkb | rs1060503075 |
gwascentral | rs1060503075 |
openSNP | rs1060503075 |
23andMe | rs1060503075 |
SNPshot | rs1060503075 |
SNPdbe | rs1060503075 |
MSV3d | rs1060503075 |
GWAS Ctlg | rs1060503075 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503075(-;-) |
Alt | rs1060503075(-;-) |
Reference | Rs1060503075(CCTC;CCTC) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.49037954_49037957delCCTC |
CLNSRC | |
CLNACC | RCV000476967.1, |