rs35077384
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35077384(A;A) |
Make rs35077384(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 97749494 |
Gene | ZFYVE27 |
is a | snp |
is | mentioned by |
dbSNP | rs35077384 |
dbSNP (classic) | rs35077384 |
ClinGen | rs35077384 |
ebi | rs35077384 |
HLI | rs35077384 |
Exac | rs35077384 |
Gnomad | rs35077384 |
Varsome | rs35077384 |
LitVar | rs35077384 |
Map | rs35077384 |
PheGenI | rs35077384 |
Biobank | rs35077384 |
1000 genomes | rs35077384 |
hgdp | rs35077384 |
ensembl | rs35077384 |
geneview | rs35077384 |
scholar | rs35077384 |
rs35077384 | |
pharmgkb | rs35077384 |
gwascentral | rs35077384 |
openSNP | rs35077384 |
23andMe | rs35077384 |
SNPshot | rs35077384 |
SNPdbe | rs35077384 |
MSV3d | rs35077384 |
GWAS Ctlg | rs35077384 |
GMAF | 0.02204 |
Max Magnitude | 0 |
? | (A;C) (C;C) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs35077384(A;A) |
Alt | rs35077384(A;A) |
Reference | Rs35077384(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 33 Spastic Paraplegia not specified Spastic tetraparesis Spastic paraplegia |
Variation | info |
Gene | ZFYVE27 |
CLNDBN | Spastic paraplegia 33, autosomal dominant Spastic Paraplegia, Dominant not specified Spastic tetraparesis Spastic paraplegia |
Reversed | 1 |
HGVS | NC_000010.10:g.99509251G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001352.6, RCV000297935.1, RCV000407569.1, RCV000415084.1, RCV000471962.1, |