rs759947457
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTGATGTCCTGGCCCGCC;CTGATGTCCTGGCCCGCC) | 0 | common in clinvar |
Make rs759947457(-;-) |
Make rs759947457(-;CTGATGTCCTGGCCCGCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 74774580 |
Gene | FA2H |
is a | snp |
is | mentioned by |
dbSNP | rs759947457 |
dbSNP (classic) | rs759947457 |
ClinGen | rs759947457 |
ebi | rs759947457 |
HLI | rs759947457 |
Exac | rs759947457 |
Gnomad | rs759947457 |
Varsome | rs759947457 |
LitVar | rs759947457 |
Map | rs759947457 |
PheGenI | rs759947457 |
Biobank | rs759947457 |
1000 genomes | rs759947457 |
hgdp | rs759947457 |
ensembl | rs759947457 |
geneview | rs759947457 |
scholar | rs759947457 |
rs759947457 | |
pharmgkb | rs759947457 |
gwascentral | rs759947457 |
openSNP | rs759947457 |
23andMe | rs759947457 |
SNPshot | rs759947457 |
SNPdbe | rs759947457 |
MSV3d | rs759947457 |
GWAS Ctlg | rs759947457 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759947457(-;-) |
Alt | rs759947457(-;-) |
Reference | Rs759947457(CTGATGTCCTGGCCCGCC;CTGATGTCCTGGCCCGCC) |
Significance | Pathogenic |
Disease | Spastic paraplegia 35 |
Variation | info |
Gene | FA2H |
CLNDBN | Spastic paraplegia 35 |
Reversed | 0 |
HGVS | NC_000016.9:g.74808478_74808495del18 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023856.4, |