rs765746795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765746795(C;G) |
Make rs765746795(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 232541451 |
Gene | CHRNG |
is a | snp |
is | mentioned by |
dbSNP | rs765746795 |
dbSNP (classic) | rs765746795 |
ClinGen | rs765746795 |
ebi | rs765746795 |
HLI | rs765746795 |
Exac | rs765746795 |
Gnomad | rs765746795 |
Varsome | rs765746795 |
LitVar | rs765746795 |
Map | rs765746795 |
PheGenI | rs765746795 |
Biobank | rs765746795 |
1000 genomes | rs765746795 |
hgdp | rs765746795 |
ensembl | rs765746795 |
geneview | rs765746795 |
scholar | rs765746795 |
rs765746795 | |
pharmgkb | rs765746795 |
gwascentral | rs765746795 |
openSNP | rs765746795 |
23andMe | rs765746795 |
SNPshot | rs765746795 |
SNPdbe | rs765746795 |
MSV3d | rs765746795 |
GWAS Ctlg | rs765746795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765746795(G;G) |
Alt | rs765746795(G;G) |
Reference | Rs765746795(C;C) |
Significance | Pathogenic |
Disease | Multiple pterygium syndrome Escobar type |
Variation | info |
Gene | CHRNG |
CLNDBN | Multiple pterygium syndrome Escobar type |
Reversed | 0 |
HGVS | NC_000002.11:g.233406161C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201797.2, |