rs121918357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918357(C;C) |
Make rs121918357(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 89553932 |
Gene | SPG7 |
is a | snp |
is | mentioned by |
dbSNP | rs121918357 |
dbSNP (classic) | rs121918357 |
ClinGen | rs121918357 |
ebi | rs121918357 |
HLI | rs121918357 |
Exac | rs121918357 |
Gnomad | rs121918357 |
Varsome | rs121918357 |
LitVar | rs121918357 |
Map | rs121918357 |
PheGenI | rs121918357 |
Biobank | rs121918357 |
1000 genomes | rs121918357 |
hgdp | rs121918357 |
ensembl | rs121918357 |
geneview | rs121918357 |
scholar | rs121918357 |
rs121918357 | |
pharmgkb | rs121918357 |
gwascentral | rs121918357 |
openSNP | rs121918357 |
23andMe | rs121918357 |
SNPshot | rs121918357 |
SNPdbe | rs121918357 |
MSV3d | rs121918357 |
GWAS Ctlg | rs121918357 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918357(C;C) |
Alt | rs121918357(C;C) |
Reference | Rs121918357(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 7 |
Variation | info |
Gene | RPL13 SPG7 |
CLNDBN | Spastic paraplegia 7 |
Reversed | 0 |
HGVS | NC_000016.9:g.89620340G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007217.4, |