rs786205089
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786205089(-;-) |
Make rs786205089(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 68911567 |
Gene | IGHMBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205089 |
dbSNP (classic) | rs786205089 |
ClinGen | rs786205089 |
ebi | rs786205089 |
HLI | rs786205089 |
Exac | rs786205089 |
Gnomad | rs786205089 |
Varsome | rs786205089 |
LitVar | rs786205089 |
Map | rs786205089 |
PheGenI | rs786205089 |
Biobank | rs786205089 |
1000 genomes | rs786205089 |
hgdp | rs786205089 |
ensembl | rs786205089 |
geneview | rs786205089 |
scholar | rs786205089 |
rs786205089 | |
pharmgkb | rs786205089 |
gwascentral | rs786205089 |
openSNP | rs786205089 |
23andMe | rs786205089 |
SNPshot | rs786205089 |
SNPdbe | rs786205089 |
MSV3d | rs786205089 |
GWAS Ctlg | rs786205089 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205089(-;-) |
Alt | rs786205089(-;-) |
Reference | Rs786205089(T;T) |
Significance | Pathogenic |
Disease | Werdnig-Hoffmann disease |
Variation | info |
Gene | IGHMBP2 |
CLNDBN | Werdnig-Hoffmann disease |
Reversed | 0 |
HGVS | NC_000011.9:g.68679035delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009686.3, |