rs879253714
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs879253714(-;-) |
Make rs879253714(-;TG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 153863517 |
Gene | L1CAM |
is a | snp |
is | mentioned by |
dbSNP | rs879253714 |
dbSNP (classic) | rs879253714 |
ClinGen | rs879253714 |
ebi | rs879253714 |
HLI | rs879253714 |
Exac | rs879253714 |
Gnomad | rs879253714 |
Varsome | rs879253714 |
LitVar | rs879253714 |
Map | rs879253714 |
PheGenI | rs879253714 |
Biobank | rs879253714 |
1000 genomes | rs879253714 |
hgdp | rs879253714 |
ensembl | rs879253714 |
geneview | rs879253714 |
scholar | rs879253714 |
rs879253714 | |
pharmgkb | rs879253714 |
gwascentral | rs879253714 |
openSNP | rs879253714 |
23andMe | rs879253714 |
SNPshot | rs879253714 |
SNPdbe | rs879253714 |
MSV3d | rs879253714 |
GWAS Ctlg | rs879253714 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253714(-;-) |
Alt | rs879253714(-;-) |
Reference | Rs879253714(TG;TG) |
Significance | Pathogenic |
Disease | Spastic paraplegia 1 |
Variation | info |
Gene | L1CAM |
CLNDBN | Spastic paraplegia 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.153128972_153128973delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010673.2, |