rs752989523
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs752989523(C;C) |
Make rs752989523(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 89553853 |
Gene | SPG7 |
is a | snp |
is | mentioned by |
dbSNP | rs752989523 |
dbSNP (classic) | rs752989523 |
ClinGen | rs752989523 |
ebi | rs752989523 |
HLI | rs752989523 |
Exac | rs752989523 |
Gnomad | rs752989523 |
Varsome | rs752989523 |
LitVar | rs752989523 |
Map | rs752989523 |
PheGenI | rs752989523 |
Biobank | rs752989523 |
1000 genomes | rs752989523 |
hgdp | rs752989523 |
ensembl | rs752989523 |
geneview | rs752989523 |
scholar | rs752989523 |
rs752989523 | |
pharmgkb | rs752989523 |
gwascentral | rs752989523 |
openSNP | rs752989523 |
23andMe | rs752989523 |
SNPshot | rs752989523 |
SNPdbe | rs752989523 |
MSV3d | rs752989523 |
GWAS Ctlg | rs752989523 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752989523(A;A) rs752989523(C;C) |
Alt | rs752989523(A;A) rs752989523(C;C) |
Reference | Rs752989523(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 7 |
Variation | info |
Gene | RPL13 SPG7 |
CLNDBN | Spastic paraplegia 7 |
Reversed | 0 |
HGVS | NC_000016.9:g.89620261G>A; NC_000016.9:g.89620261G>C |
CLNSRC | |
CLNACC | RCV000236261.1, RCV000200425.1, |