rs797046092
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797046092(C;C) |
Make rs797046092(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 2622191 |
Gene | VLDLR, VLDLR-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs797046092 |
dbSNP (classic) | rs797046092 |
ClinGen | rs797046092 |
ebi | rs797046092 |
HLI | rs797046092 |
Exac | rs797046092 |
Gnomad | rs797046092 |
Varsome | rs797046092 |
LitVar | rs797046092 |
Map | rs797046092 |
PheGenI | rs797046092 |
Biobank | rs797046092 |
1000 genomes | rs797046092 |
hgdp | rs797046092 |
ensembl | rs797046092 |
geneview | rs797046092 |
scholar | rs797046092 |
rs797046092 | |
pharmgkb | rs797046092 |
gwascentral | rs797046092 |
openSNP | rs797046092 |
23andMe | rs797046092 |
SNPshot | rs797046092 |
SNPdbe | rs797046092 |
MSV3d | rs797046092 |
GWAS Ctlg | rs797046092 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046092(C;C) |
Alt | rs797046092(C;C) |
Reference | Rs797046092(T;T) |
Significance | Probable-Pathogenic |
Disease | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
Variation | info |
Gene | VLDLR-AS1 VLDLR |
CLNDBN | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.2622191T>C |
CLNSRC | |
CLNACC | RCV000193524.1, |