rs875989845
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs875989845(-;-) |
Make rs875989845(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 65183543 |
Gene | CAPN1, LOC728975 |
is a | snp |
is | mentioned by |
dbSNP | rs875989845 |
dbSNP (classic) | rs875989845 |
ClinGen | rs875989845 |
ebi | rs875989845 |
HLI | rs875989845 |
Exac | rs875989845 |
Gnomad | rs875989845 |
Varsome | rs875989845 |
LitVar | rs875989845 |
Map | rs875989845 |
PheGenI | rs875989845 |
Biobank | rs875989845 |
1000 genomes | rs875989845 |
hgdp | rs875989845 |
ensembl | rs875989845 |
geneview | rs875989845 |
scholar | rs875989845 |
rs875989845 | |
pharmgkb | rs875989845 |
gwascentral | rs875989845 |
openSNP | rs875989845 |
23andMe | rs875989845 |
SNPshot | rs875989845 |
SNPdbe | rs875989845 |
MSV3d | rs875989845 |
GWAS Ctlg | rs875989845 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989845(-;-) |
Alt | rs875989845(-;-) |
Reference | Rs875989845(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 76 |
Variation | info |
Gene | CAPN1 |
CLNDBN | Spastic paraplegia 76, autosomal recessive |
Reversed | 0 |
HGVS | NC_000011.9:g.64951014delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211053.2, |