rs878855083
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs878855083(-;-) |
Make rs878855083(-;CT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 74716564 |
Gene | FA2H |
is a | snp |
is | mentioned by |
dbSNP | rs878855083 |
dbSNP (classic) | rs878855083 |
ClinGen | rs878855083 |
ebi | rs878855083 |
HLI | rs878855083 |
Exac | rs878855083 |
Gnomad | rs878855083 |
Varsome | rs878855083 |
LitVar | rs878855083 |
Map | rs878855083 |
PheGenI | rs878855083 |
Biobank | rs878855083 |
1000 genomes | rs878855083 |
hgdp | rs878855083 |
ensembl | rs878855083 |
geneview | rs878855083 |
scholar | rs878855083 |
rs878855083 | |
pharmgkb | rs878855083 |
gwascentral | rs878855083 |
openSNP | rs878855083 |
23andMe | rs878855083 |
SNPshot | rs878855083 |
SNPdbe | rs878855083 |
MSV3d | rs878855083 |
GWAS Ctlg | rs878855083 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855083(-;-) |
Alt | rs878855083(-;-) |
Reference | Rs878855083(CT;CT) |
Significance | Pathogenic |
Disease | Spastic paraplegia |
Variation | info |
Gene | FA2H |
CLNDBN | Spastic paraplegia |
Reversed | 1 |
HGVS | NC_000016.9:g.74750462_74750463delAG |
CLNSRC | |
CLNACC | RCV000225829.1, |