rs770269674
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs770269674(A;A) |
Make rs770269674(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 2635452 |
Gene | VLDLR |
is a | snp |
is | mentioned by |
dbSNP | rs770269674 |
dbSNP (classic) | rs770269674 |
ClinGen | rs770269674 |
ebi | rs770269674 |
HLI | rs770269674 |
Exac | rs770269674 |
Gnomad | rs770269674 |
Varsome | rs770269674 |
LitVar | rs770269674 |
Map | rs770269674 |
PheGenI | rs770269674 |
Biobank | rs770269674 |
1000 genomes | rs770269674 |
hgdp | rs770269674 |
ensembl | rs770269674 |
geneview | rs770269674 |
scholar | rs770269674 |
rs770269674 | |
pharmgkb | rs770269674 |
gwascentral | rs770269674 |
openSNP | rs770269674 |
23andMe | rs770269674 |
SNPshot | rs770269674 |
SNPdbe | rs770269674 |
MSV3d | rs770269674 |
GWAS Ctlg | rs770269674 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770269674(A;A) |
Alt | rs770269674(A;A) |
Reference | Rs770269674(G;G) |
Significance | Pathogenic |
Disease | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
Variation | info |
Gene | VLDLR |
CLNDBN | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.2635452G>A |
CLNSRC | |
CLNACC | RCV000192834.1, |