rs145555213
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145555213(A;A) |
Make rs145555213(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 5368994 |
Gene | FARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs145555213 |
dbSNP (classic) | rs145555213 |
ClinGen | rs145555213 |
ebi | rs145555213 |
HLI | rs145555213 |
Exac | rs145555213 |
Gnomad | rs145555213 |
Varsome | rs145555213 |
LitVar | rs145555213 |
Map | rs145555213 |
PheGenI | rs145555213 |
Biobank | rs145555213 |
1000 genomes | rs145555213 |
hgdp | rs145555213 |
ensembl | rs145555213 |
geneview | rs145555213 |
scholar | rs145555213 |
rs145555213 | |
pharmgkb | rs145555213 |
gwascentral | rs145555213 |
openSNP | rs145555213 |
23andMe | rs145555213 |
SNPshot | rs145555213 |
SNPdbe | rs145555213 |
MSV3d | rs145555213 |
GWAS Ctlg | rs145555213 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145555213(A;A) rs145555213(T;T) |
Alt | rs145555213(A;A) rs145555213(T;T) |
Reference | Rs145555213(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 77 |
Variation | info |
Gene | FARS2 |
CLNDBN | Spastic paraplegia 77, autosomal recessive |
Reversed | 0 |
HGVS | NC_000006.11:g.5369227G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239526.1, |