rs1060499524
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060499524(-;-) |
Make rs1060499524(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 36329416 |
Gene | SPG20 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499524 |
dbSNP (old) | rs1060499524 |
ClinGen | rs1060499524 |
ebi | rs1060499524 |
HLI | rs1060499524 |
Exac | rs1060499524 |
Gnomad | rs1060499524 |
Varsome | rs1060499524 |
Map | rs1060499524 |
PheGenI | rs1060499524 |
Biobank | rs1060499524 |
1000 genomes | rs1060499524 |
hgdp | rs1060499524 |
ensembl | rs1060499524 |
gopubmed | rs1060499524 |
geneview | rs1060499524 |
scholar | rs1060499524 |
rs1060499524 | |
pharmgkb | rs1060499524 |
gwascentral | rs1060499524 |
openSNP | rs1060499524 |
23andMe | rs1060499524 |
23andMe all | rs1060499524 |
SNPshot | rs1060499524 |
SNPdbe | rs1060499524 |
MSV3d | rs1060499524 |
GWAS Ctlg | rs1060499524 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499524(-;-) |
Alt | rs1060499524(-;-) |
Reference | Rs1060499524(A;A) |
Significance | Pathogenic |
Disease | Troyer syndrome |
Variation | info |
Gene | SPG20 |
CLNDBN | Troyer syndrome |
Reversed | 1 |
HGVS | NC_000013.10:g.36903553delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003621.3, |