rs72547551
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs72547551(C;T) |
Make rs72547551(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 89550545 |
Gene | SPG7 |
is a | snp |
is | mentioned by |
dbSNP | rs72547551 |
dbSNP (classic) | rs72547551 |
ClinGen | rs72547551 |
ebi | rs72547551 |
HLI | rs72547551 |
Exac | rs72547551 |
Gnomad | rs72547551 |
Varsome | rs72547551 |
LitVar | rs72547551 |
Map | rs72547551 |
PheGenI | rs72547551 |
Biobank | rs72547551 |
1000 genomes | rs72547551 |
hgdp | rs72547551 |
ensembl | rs72547551 |
geneview | rs72547551 |
scholar | rs72547551 |
rs72547551 | |
pharmgkb | rs72547551 |
gwascentral | rs72547551 |
openSNP | rs72547551 |
23andMe | rs72547551 |
SNPshot | rs72547551 |
SNPdbe | rs72547551 |
MSV3d | rs72547551 |
GWAS Ctlg | rs72547551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72547551(T;T) |
Alt | rs72547551(T;T) |
Reference | Rs72547551(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 7 not provided |
Variation | info |
Gene | RPL13 SPG7 |
CLNDBN | Spastic paraplegia 7 not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.89616953C>T |
CLNSRC | |
CLNACC | RCV000235251.1, RCV000413737.1, |