rs771538008
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs771538008(-;-) |
Make rs771538008(-;CT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 144512307 |
Gene | RECQL4 |
is a | snp |
is | mentioned by |
dbSNP | rs771538008 |
dbSNP (classic) | rs771538008 |
ClinGen | rs771538008 |
ebi | rs771538008 |
HLI | rs771538008 |
Exac | rs771538008 |
Gnomad | rs771538008 |
Varsome | rs771538008 |
LitVar | rs771538008 |
Map | rs771538008 |
PheGenI | rs771538008 |
Biobank | rs771538008 |
1000 genomes | rs771538008 |
hgdp | rs771538008 |
ensembl | rs771538008 |
geneview | rs771538008 |
scholar | rs771538008 |
rs771538008 | |
pharmgkb | rs771538008 |
gwascentral | rs771538008 |
openSNP | rs771538008 |
23andMe | rs771538008 |
SNPshot | rs771538008 |
SNPdbe | rs771538008 |
MSV3d | rs771538008 |
GWAS Ctlg | rs771538008 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771538008(-;-) |
Alt | rs771538008(-;-) |
Reference | Rs771538008(CT;CT) |
Significance | Pathogenic |
Disease | Baller-Gerold syndrome |
Variation | info |
Gene | RECQL4 |
CLNDBN | Baller-Gerold syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.145737690_145737691delCT |
CLNSRC | |
CLNACC | RCV000227479.1, |