rs587776891
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
(CAG;CAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs587776891(-;-) |
Make rs587776891(-;TG) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 74726327 |
Gene | FA2H |
is a | snp |
is | mentioned by |
dbSNP | rs587776891 |
dbSNP (classic) | rs587776891 |
ClinGen | rs587776891 |
ebi | rs587776891 |
HLI | rs587776891 |
Exac | rs587776891 |
Gnomad | rs587776891 |
Varsome | rs587776891 |
LitVar | rs587776891 |
Map | rs587776891 |
PheGenI | rs587776891 |
Biobank | rs587776891 |
1000 genomes | rs587776891 |
hgdp | rs587776891 |
ensembl | rs587776891 |
geneview | rs587776891 |
scholar | rs587776891 |
rs587776891 | |
pharmgkb | rs587776891 |
gwascentral | rs587776891 |
openSNP | rs587776891 |
23andMe | rs587776891 |
SNPshot | rs587776891 |
SNPdbe | rs587776891 |
MSV3d | rs587776891 |
GWAS Ctlg | rs587776891 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776891(TG;TG) rs587776891(-;-) |
Alt | Rs587776891(TG;TG) rs587776891(-;-) |
Reference | Rs587776891(CA;CA) |
Significance | Pathogenic |
Disease | Spastic paraplegia 35 |
Variation | info |
Gene | FA2H |
CLNDBN | Spastic paraplegia 35 |
Reversed | 1 |
HGVS | NC_000016.9:g.74760225_74760226delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023858.5, |