rs1060503428
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAGAGGCG;GGAGAGGCG) | 0 | common in clinvar |
Make rs1060503428(-;-) |
Make rs1060503428(-;GGCGGGAGA) |
Make rs1060503428(GGCGGGAGA;GGCGGGAGA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 89546662 |
Gene | SPG7 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503428 |
dbSNP (classic) | rs1060503428 |
ClinGen | rs1060503428 |
ebi | rs1060503428 |
HLI | rs1060503428 |
Exac | rs1060503428 |
Gnomad | rs1060503428 |
Varsome | rs1060503428 |
LitVar | rs1060503428 |
Map | rs1060503428 |
PheGenI | rs1060503428 |
Biobank | rs1060503428 |
1000 genomes | rs1060503428 |
hgdp | rs1060503428 |
ensembl | rs1060503428 |
geneview | rs1060503428 |
scholar | rs1060503428 |
rs1060503428 | |
pharmgkb | rs1060503428 |
gwascentral | rs1060503428 |
openSNP | rs1060503428 |
23andMe | rs1060503428 |
SNPshot | rs1060503428 |
SNPdbe | rs1060503428 |
MSV3d | rs1060503428 |
GWAS Ctlg | rs1060503428 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503428(-;-) |
Alt | rs1060503428(-;-) |
Reference | Rs1060503428(GGAGAGGCG;GGAGAGGCG) |
Significance | Pathogenic |
Disease | Spastic paraplegia 7 not provided |
Variation | info |
Gene | SPG7 |
CLNDBN | Spastic paraplegia 7 not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.89613070_89613078delGGCGGGAGA |
CLNSRC | |
CLNACC | RCV000475192.1, RCV000479409.1, |