rs876661322
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs876661322(G;T) |
Make rs876661322(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 100183802 |
Gene | ERLIN1 |
is a | snp |
is | mentioned by |
dbSNP | rs876661322 |
dbSNP (classic) | rs876661322 |
ClinGen | rs876661322 |
ebi | rs876661322 |
HLI | rs876661322 |
Exac | rs876661322 |
Gnomad | rs876661322 |
Varsome | rs876661322 |
LitVar | rs876661322 |
Map | rs876661322 |
PheGenI | rs876661322 |
Biobank | rs876661322 |
1000 genomes | rs876661322 |
hgdp | rs876661322 |
ensembl | rs876661322 |
geneview | rs876661322 |
scholar | rs876661322 |
rs876661322 | |
pharmgkb | rs876661322 |
gwascentral | rs876661322 |
openSNP | rs876661322 |
23andMe | rs876661322 |
SNPshot | rs876661322 |
SNPdbe | rs876661322 |
MSV3d | rs876661322 |
GWAS Ctlg | rs876661322 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661322(T;T) |
Alt | rs876661322(T;T) |
Reference | Rs876661322(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 62 |
Variation | info |
Gene | ERLIN1 |
CLNDBN | Spastic paraplegia 62, autosomal recessive |
Reversed | 1 |
HGVS | NC_000010.10:g.101943559C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211706.1, |