rs587777174
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777174(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 103101271 |
Gene | NT5C2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777174 |
dbSNP (classic) | rs587777174 |
ClinGen | rs587777174 |
ebi | rs587777174 |
HLI | rs587777174 |
Exac | rs587777174 |
Gnomad | rs587777174 |
Varsome | rs587777174 |
LitVar | rs587777174 |
Map | rs587777174 |
PheGenI | rs587777174 |
Biobank | rs587777174 |
1000 genomes | rs587777174 |
hgdp | rs587777174 |
ensembl | rs587777174 |
geneview | rs587777174 |
scholar | rs587777174 |
rs587777174 | |
pharmgkb | rs587777174 |
gwascentral | rs587777174 |
openSNP | rs587777174 |
23andMe | rs587777174 |
SNPshot | rs587777174 |
SNPdbe | rs587777174 |
MSV3d | rs587777174 |
GWAS Ctlg | rs587777174 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777174(T;T) |
Alt | Rs587777174(T;T) |
Reference | Rs587777174(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 45 |
Variation | info |
Gene | NT5C2 |
CLNDBN | Spastic paraplegia 45, autosomal recessive |
Reversed | 1 |
HGVS | NC_000010.10:g.104861028T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087271.3, |