rs730880325
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730880325(-;A) |
Make rs730880325(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 14625894 |
Gene | C12orf60, GUCY2C |
is a | snp |
is | mentioned by |
dbSNP | rs730880325 |
dbSNP (classic) | rs730880325 |
ClinGen | rs730880325 |
ebi | rs730880325 |
HLI | rs730880325 |
Exac | rs730880325 |
Gnomad | rs730880325 |
Varsome | rs730880325 |
LitVar | rs730880325 |
Map | rs730880325 |
PheGenI | rs730880325 |
Biobank | rs730880325 |
1000 genomes | rs730880325 |
hgdp | rs730880325 |
ensembl | rs730880325 |
geneview | rs730880325 |
scholar | rs730880325 |
rs730880325 | |
pharmgkb | rs730880325 |
gwascentral | rs730880325 |
openSNP | rs730880325 |
23andMe | rs730880325 |
SNPshot | rs730880325 |
SNPdbe | rs730880325 |
MSV3d | rs730880325 |
GWAS Ctlg | rs730880325 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880325(A;A) |
Alt | rs730880325(A;A) |
Reference | Rs730880325(-;-) |
Significance | Pathogenic |
Disease | Meconium ileus |
Variation | info |
Gene | GUCY2C |
CLNDBN | Meconium ileus |
Reversed | 1 |
HGVS | NC_000012.11:g.14778829dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024309.2, |