rs878854975
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs878854975(G;G) |
Make rs878854975(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 6464888 |
Gene | TAPBPL, VAMP1 |
is a | snp |
is | mentioned by |
dbSNP | rs878854975 |
dbSNP (classic) | rs878854975 |
ClinGen | rs878854975 |
ebi | rs878854975 |
HLI | rs878854975 |
Exac | rs878854975 |
Gnomad | rs878854975 |
Varsome | rs878854975 |
LitVar | rs878854975 |
Map | rs878854975 |
PheGenI | rs878854975 |
Biobank | rs878854975 |
1000 genomes | rs878854975 |
hgdp | rs878854975 |
ensembl | rs878854975 |
geneview | rs878854975 |
scholar | rs878854975 |
rs878854975 | |
pharmgkb | rs878854975 |
gwascentral | rs878854975 |
openSNP | rs878854975 |
23andMe | rs878854975 |
SNPshot | rs878854975 |
SNPdbe | rs878854975 |
MSV3d | rs878854975 |
GWAS Ctlg | rs878854975 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854975(G;G) |
Alt | rs878854975(G;G) |
Reference | Rs878854975(T;T) |
Significance | Pathogenic |
Disease | Ataxia Spastic paraplegia not provided |
Variation | info |
Gene | VAMP1 |
CLNDBN | Ataxia, spastic, 1, autosomal dominant Spastic paraplegia not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.6574054A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128446.2, RCV000233592.1, RCV000255544.1, |