rs1060503017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAAGACCT;GAAGACCT) | 0 | common in clinvar |
Make rs1060503017(-;-) |
Make rs1060503017(-;GAAGACCT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 23825398 |
Gene | SMARCB1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503017 |
dbSNP (classic) | rs1060503017 |
ClinGen | rs1060503017 |
ebi | rs1060503017 |
HLI | rs1060503017 |
Exac | rs1060503017 |
Gnomad | rs1060503017 |
Varsome | rs1060503017 |
LitVar | rs1060503017 |
Map | rs1060503017 |
PheGenI | rs1060503017 |
Biobank | rs1060503017 |
1000 genomes | rs1060503017 |
hgdp | rs1060503017 |
ensembl | rs1060503017 |
geneview | rs1060503017 |
scholar | rs1060503017 |
rs1060503017 | |
pharmgkb | rs1060503017 |
gwascentral | rs1060503017 |
openSNP | rs1060503017 |
23andMe | rs1060503017 |
SNPshot | rs1060503017 |
SNPdbe | rs1060503017 |
MSV3d | rs1060503017 |
GWAS Ctlg | rs1060503017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503017(-;-) |
Alt | rs1060503017(-;-) |
Reference | Rs1060503017(GAAGACCT;GAAGACCT) |
Significance | Pathogenic |
Disease | Rhabdoid tumor predisposition syndrome 1 Schwannomatosis |
Variation | info |
Gene | SMARCB1 |
CLNDBN | Rhabdoid tumor predisposition syndrome 1 Schwannomatosis |
Reversed | 0 |
HGVS | NC_000022.10:g.24167585_24167592delGAAGACCT |
CLNSRC | |
CLNACC | RCV000464666.1, |