rs863224924
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224924(CCAAGTCTGTA;CCAAGTCTGTA) |
Make rs863224924(CCAAGTCTGTA;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 89554502 |
Gene | SPG7 |
is a | snp |
is | mentioned by |
dbSNP | rs863224924 |
dbSNP (classic) | rs863224924 |
ClinGen | rs863224924 |
ebi | rs863224924 |
HLI | rs863224924 |
Exac | rs863224924 |
Gnomad | rs863224924 |
Varsome | rs863224924 |
LitVar | rs863224924 |
Map | rs863224924 |
PheGenI | rs863224924 |
Biobank | rs863224924 |
1000 genomes | rs863224924 |
hgdp | rs863224924 |
ensembl | rs863224924 |
geneview | rs863224924 |
scholar | rs863224924 |
rs863224924 | |
pharmgkb | rs863224924 |
gwascentral | rs863224924 |
openSNP | rs863224924 |
23andMe | rs863224924 |
SNPshot | rs863224924 |
SNPdbe | rs863224924 |
MSV3d | rs863224924 |
GWAS Ctlg | rs863224924 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224924(CCAAGTCTGTA;CCAAGTCTGTA) |
Alt | rs863224924(CCAAGTCTGTA;CCAAGTCTGTA) |
Reference | Rs863224924(T;T) |
Significance | Probable-Pathogenic |
Disease | Spastic paraplegia 7 |
Variation | info |
Gene | RPL13 SPG7 |
CLNDBN | Spastic paraplegia 7 |
Reversed | 0 |
HGVS | NC_000016.9:g.89620910delTinsCCAAGTCTGTA |
CLNSRC | |
CLNACC | RCV000198007.1, |