rs132630293
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs132630293(C;T) |
Make rs132630293(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 103789361 |
Gene | PLP1 |
is a | snp |
is | mentioned by |
dbSNP | rs132630293 |
dbSNP (classic) | rs132630293 |
ClinGen | rs132630293 |
ebi | rs132630293 |
HLI | rs132630293 |
Exac | rs132630293 |
Gnomad | rs132630293 |
Varsome | rs132630293 |
LitVar | rs132630293 |
Map | rs132630293 |
PheGenI | rs132630293 |
Biobank | rs132630293 |
1000 genomes | rs132630293 |
hgdp | rs132630293 |
ensembl | rs132630293 |
geneview | rs132630293 |
scholar | rs132630293 |
rs132630293 | |
pharmgkb | rs132630293 |
gwascentral | rs132630293 |
openSNP | rs132630293 |
23andMe | rs132630293 |
SNPshot | rs132630293 |
SNPdbe | rs132630293 |
MSV3d | rs132630293 |
GWAS Ctlg | rs132630293 |
Merged from | Rs28936080 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs132630293(T;T) |
Alt | rs132630293(T;T) |
Reference | Rs132630293(C;C) |
Significance | Pathogenic |
Disease | Pelizaeus-Merzbacher disease |
Variation | info |
Gene | PLP1 |
CLNDBN | Pelizaeus-Merzbacher disease, connatal |
Reversed | 0 |
HGVS | NC_000023.10:g.103044290C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011840.10, |