rs786200890
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCACAG;TCACAG) | 0 | common in clinvar |
Make rs786200890(-;-) |
Make rs786200890(-;TCACAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 144514062 |
Gene | RECQL4 |
is a | snp |
is | mentioned by |
dbSNP | rs786200890 |
dbSNP (classic) | rs786200890 |
ClinGen | rs786200890 |
ebi | rs786200890 |
HLI | rs786200890 |
Exac | rs786200890 |
Gnomad | rs786200890 |
Varsome | rs786200890 |
LitVar | rs786200890 |
Map | rs786200890 |
PheGenI | rs786200890 |
Biobank | rs786200890 |
1000 genomes | rs786200890 |
hgdp | rs786200890 |
ensembl | rs786200890 |
geneview | rs786200890 |
scholar | rs786200890 |
rs786200890 | |
pharmgkb | rs786200890 |
gwascentral | rs786200890 |
openSNP | rs786200890 |
23andMe | rs786200890 |
SNPshot | rs786200890 |
SNPdbe | rs786200890 |
MSV3d | rs786200890 |
GWAS Ctlg | rs786200890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200890(-;-) |
Alt | rs786200890(-;-) |
Reference | Rs786200890(TCACAG;TCACAG) |
Significance | Pathogenic |
Disease | Rothmund-Thomson syndrome |
Variation | info |
Gene | RECQL4 |
CLNDBN | Rothmund-Thomson syndrome |
Reversed | 1 |
HGVS | NC_000008.10:g.145739446_145739451delCTGTGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006449.3, |