rs387906264
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906264(A;G) |
Make rs387906264(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 86254816 |
Gene | REEP1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906264 |
dbSNP (classic) | rs387906264 |
ClinGen | rs387906264 |
ebi | rs387906264 |
HLI | rs387906264 |
Exac | rs387906264 |
Gnomad | rs387906264 |
Varsome | rs387906264 |
LitVar | rs387906264 |
Map | rs387906264 |
PheGenI | rs387906264 |
Biobank | rs387906264 |
1000 genomes | rs387906264 |
hgdp | rs387906264 |
ensembl | rs387906264 |
geneview | rs387906264 |
scholar | rs387906264 |
rs387906264 | |
pharmgkb | rs387906264 |
gwascentral | rs387906264 |
openSNP | rs387906264 |
23andMe | rs387906264 |
SNPshot | rs387906264 |
SNPdbe | rs387906264 |
MSV3d | rs387906264 |
GWAS Ctlg | rs387906264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906264(G;G) |
Alt | rs387906264(G;G) |
Reference | Rs387906264(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 31 |
Variation | info |
Gene | REEP1 |
CLNDBN | Spastic paraplegia 31, autosomal dominant |
Reversed | 1 |
HGVS | NC_000002.11:g.86481939T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001937.2, |