rs267606786
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606786(C;T) |
Make rs267606786(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 44124817 |
Gene | EXT2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606786 |
dbSNP (classic) | rs267606786 |
ClinGen | rs267606786 |
ebi | rs267606786 |
HLI | rs267606786 |
Exac | rs267606786 |
Gnomad | rs267606786 |
Varsome | rs267606786 |
LitVar | rs267606786 |
Map | rs267606786 |
PheGenI | rs267606786 |
Biobank | rs267606786 |
1000 genomes | rs267606786 |
hgdp | rs267606786 |
ensembl | rs267606786 |
geneview | rs267606786 |
scholar | rs267606786 |
rs267606786 | |
pharmgkb | rs267606786 |
gwascentral | rs267606786 |
openSNP | rs267606786 |
23andMe | rs267606786 |
SNPshot | rs267606786 |
SNPdbe | rs267606786 |
MSV3d | rs267606786 |
GWAS Ctlg | rs267606786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606786(T;T) |
Alt | rs267606786(T;T) |
Reference | Rs267606786(C;C) |
Significance | Pathogenic |
Disease | Multiple exostoses type 2 |
Variation | info |
Gene | EXT2 |
CLNDBN | Multiple exostoses type 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.44146367C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002580.3, |