rs863223313
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863223313(-;AGGGTGCCG) |
Make rs863223313(AGGGTGCCG;AGGGTGCCG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 232540670 |
Gene | CHRNG |
is a | snp |
is | mentioned by |
dbSNP | rs863223313 |
dbSNP (classic) | rs863223313 |
ClinGen | rs863223313 |
ebi | rs863223313 |
HLI | rs863223313 |
Exac | rs863223313 |
Gnomad | rs863223313 |
Varsome | rs863223313 |
LitVar | rs863223313 |
Map | rs863223313 |
PheGenI | rs863223313 |
Biobank | rs863223313 |
1000 genomes | rs863223313 |
hgdp | rs863223313 |
ensembl | rs863223313 |
geneview | rs863223313 |
scholar | rs863223313 |
rs863223313 | |
pharmgkb | rs863223313 |
gwascentral | rs863223313 |
openSNP | rs863223313 |
23andMe | rs863223313 |
SNPshot | rs863223313 |
SNPdbe | rs863223313 |
MSV3d | rs863223313 |
GWAS Ctlg | rs863223313 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223313(GAGGGTGCC;GAGGGTGCC) |
Alt | rs863223313(GAGGGTGCC;GAGGGTGCC) |
Reference | Rs863223313(-;-) |
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.233405372_233405380dupAGGGTGCCG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020005.29, |