rs1060499557
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCAT;TCAT) | 0 | common in clinvar |
Make rs1060499557(-;-) |
Make rs1060499557(-;TCAT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 24883255 |
Gene | CENPJ, RNF17 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499557 |
dbSNP (classic) | rs1060499557 |
ClinGen | rs1060499557 |
ebi | rs1060499557 |
HLI | rs1060499557 |
Exac | rs1060499557 |
Gnomad | rs1060499557 |
Varsome | rs1060499557 |
LitVar | rs1060499557 |
Map | rs1060499557 |
PheGenI | rs1060499557 |
Biobank | rs1060499557 |
1000 genomes | rs1060499557 |
hgdp | rs1060499557 |
ensembl | rs1060499557 |
geneview | rs1060499557 |
scholar | rs1060499557 |
rs1060499557 | |
pharmgkb | rs1060499557 |
gwascentral | rs1060499557 |
openSNP | rs1060499557 |
23andMe | rs1060499557 |
SNPshot | rs1060499557 |
SNPdbe | rs1060499557 |
MSV3d | rs1060499557 |
GWAS Ctlg | rs1060499557 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499557(-;-) |
Alt | rs1060499557(-;-) |
Reference | Rs1060499557(TCAT;TCAT) |
Significance | Pathogenic |
Disease | Seckel syndrome 5 |
Variation | info |
Gene | CENPJ |
CLNDBN | Seckel syndrome 5 |
Reversed | 1 |
HGVS | NC_000013.10:g.25457393_25457396delATGA |
CLNSRC | |
CLNACC | RCV000470349.1, |