rs397704705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAT;GGAT) | 0 | common in clinvar |
Make rs397704705(GGAT;TGCTGTAAACTGTAACTGTAAA) |
Make rs397704705(TGCTGTAAACTGTAACTGTAAA;TGCTGTAAACTGTAACTGTAAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 4781213 |
Gene | AP5Z1 |
is a | snp |
is | mentioned by |
dbSNP | rs397704705 |
dbSNP (classic) | rs397704705 |
ClinGen | rs397704705 |
ebi | rs397704705 |
HLI | rs397704705 |
Exac | rs397704705 |
Gnomad | rs397704705 |
Varsome | rs397704705 |
LitVar | rs397704705 |
Map | rs397704705 |
PheGenI | rs397704705 |
Biobank | rs397704705 |
1000 genomes | rs397704705 |
hgdp | rs397704705 |
ensembl | rs397704705 |
geneview | rs397704705 |
scholar | rs397704705 |
rs397704705 | |
pharmgkb | rs397704705 |
gwascentral | rs397704705 |
openSNP | rs397704705 |
23andMe | rs397704705 |
SNPshot | rs397704705 |
SNPdbe | rs397704705 |
MSV3d | rs397704705 |
GWAS Ctlg | rs397704705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397704705(TGCTGTAAACTGTAACTGTAAA;TGCTGTAAACTGTAACTGTAAA) |
Alt | rs397704705(TGCTGTAAACTGTAACTGTAAA;TGCTGTAAACTGTAACTGTAAA) |
Reference | Rs397704705(GGAT;GGAT) |
Significance | Pathogenic |
Disease | Spastic paraplegia 48 |
Variation | info |
Gene | AP5Z1 |
CLNDBN | Spastic paraplegia 48, autosomal recessive |
Reversed | 0 |
HGVS | NC_000007.13:g.4820844_4820847delGGATinsTGCTGTAAACTGTAACTGTAAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000012.4, |