rs767503038
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs767503038(-;-) |
Make rs767503038(-;CT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 232543030 |
Gene | CHRNG |
is a | snp |
is | mentioned by |
dbSNP | rs767503038 |
dbSNP (classic) | rs767503038 |
ClinGen | rs767503038 |
ebi | rs767503038 |
HLI | rs767503038 |
Exac | rs767503038 |
Gnomad | rs767503038 |
Varsome | rs767503038 |
LitVar | rs767503038 |
Map | rs767503038 |
PheGenI | rs767503038 |
Biobank | rs767503038 |
1000 genomes | rs767503038 |
hgdp | rs767503038 |
ensembl | rs767503038 |
geneview | rs767503038 |
scholar | rs767503038 |
rs767503038 | |
pharmgkb | rs767503038 |
gwascentral | rs767503038 |
openSNP | rs767503038 |
23andMe | rs767503038 |
SNPshot | rs767503038 |
SNPdbe | rs767503038 |
MSV3d | rs767503038 |
GWAS Ctlg | rs767503038 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767503038(-;-) |
Alt | rs767503038(-;-) |
Reference | Rs767503038(CT;CT) |
Significance | Pathogenic |
Disease | Lethal multiple pterygium syndrome Multiple pterygium syndrome Escobar type not provided |
Variation | info |
Gene | CHRNG |
CLNDBN | Lethal multiple pterygium syndrome Multiple pterygium syndrome Escobar type not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.233407740_233407741delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020010.28, RCV000201795.1, RCV000282633.1, |