rs587777667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAAAC;AAAAC) | 0 | common in clinvar |
Make rs587777667(-;-) |
Make rs587777667(-;AACAA) |
Make rs587777667(AACAA;AACAA) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 123256943 |
Gene | C12orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587777667 |
dbSNP (classic) | rs587777667 |
ClinGen | rs587777667 |
ebi | rs587777667 |
HLI | rs587777667 |
Exac | rs587777667 |
Gnomad | rs587777667 |
Varsome | rs587777667 |
LitVar | rs587777667 |
Map | rs587777667 |
PheGenI | rs587777667 |
Biobank | rs587777667 |
1000 genomes | rs587777667 |
hgdp | rs587777667 |
ensembl | rs587777667 |
geneview | rs587777667 |
scholar | rs587777667 |
rs587777667 | |
pharmgkb | rs587777667 |
gwascentral | rs587777667 |
openSNP | rs587777667 |
23andMe | rs587777667 |
SNPshot | rs587777667 |
SNPdbe | rs587777667 |
MSV3d | rs587777667 |
GWAS Ctlg | rs587777667 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777667(-;-) |
Alt | rs587777667(-;-) |
Reference | Rs587777667(AAAAC;AAAAC) |
Significance | Pathogenic |
Disease | Spastic paraplegia 55 |
Variation | info |
Gene | C12orf65 |
CLNDBN | Spastic paraplegia 55, autosomal recessive |
Reversed | 0 |
HGVS | NC_000012.11:g.123741490_123741494delAACAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000133580.2, |