rs794727501
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727501(C;C) |
Make rs794727501(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 64616016 |
Gene | CYP7B1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727501 |
dbSNP (classic) | rs794727501 |
ClinGen | rs794727501 |
ebi | rs794727501 |
HLI | rs794727501 |
Exac | rs794727501 |
Gnomad | rs794727501 |
Varsome | rs794727501 |
LitVar | rs794727501 |
Map | rs794727501 |
PheGenI | rs794727501 |
Biobank | rs794727501 |
1000 genomes | rs794727501 |
hgdp | rs794727501 |
ensembl | rs794727501 |
geneview | rs794727501 |
scholar | rs794727501 |
rs794727501 | |
pharmgkb | rs794727501 |
gwascentral | rs794727501 |
openSNP | rs794727501 |
23andMe | rs794727501 |
SNPshot | rs794727501 |
SNPdbe | rs794727501 |
MSV3d | rs794727501 |
GWAS Ctlg | rs794727501 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727501(A;A) rs794727501(C;C) |
Alt | rs794727501(A;A) rs794727501(C;C) |
Reference | Rs794727501(G;G) |
Significance | Pathogenic |
Disease | not specified Spastic paraplegia |
Variation | info |
Gene | CYP7B1 |
CLNDBN | not specified Spastic paraplegia |
Reversed | 1 |
HGVS | NC_000008.10:g.65528573C>G; NC_000008.10:g.65528573C>T |
CLNSRC | |
CLNACC | RCV000177219.1, RCV000230120.1, |