rs794729214
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs794729214(-;GCGGGCCAGG) |
Make rs794729214(GCGGGCCAGG;GCGGGCCAGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 74774596 |
Gene | FA2H |
is a | snp |
is | mentioned by |
dbSNP | rs794729214 |
dbSNP (classic) | rs794729214 |
ClinGen | rs794729214 |
ebi | rs794729214 |
HLI | rs794729214 |
Exac | rs794729214 |
Gnomad | rs794729214 |
Varsome | rs794729214 |
LitVar | rs794729214 |
Map | rs794729214 |
PheGenI | rs794729214 |
Biobank | rs794729214 |
1000 genomes | rs794729214 |
hgdp | rs794729214 |
ensembl | rs794729214 |
geneview | rs794729214 |
scholar | rs794729214 |
rs794729214 | |
pharmgkb | rs794729214 |
gwascentral | rs794729214 |
openSNP | rs794729214 |
23andMe | rs794729214 |
SNPshot | rs794729214 |
SNPdbe | rs794729214 |
MSV3d | rs794729214 |
GWAS Ctlg | rs794729214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729214(GCGGGCCAGG;GCGGGCCAGG) |
Alt | rs794729214(GCGGGCCAGG;GCGGGCCAGG) |
Reference | Rs794729214(-;-) |
Significance | Probable-Pathogenic |
Disease | Spastic paraplegia 35 |
Variation | info |
Gene | FA2H |
CLNDBN | Spastic paraplegia 35 |
Reversed | 1 |
HGVS | NC_000016.9:g.74808495_74808504dupCCTGGCCCGC |
CLNSRC | |
CLNACC | RCV000184035.1, |