rs587776905
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a meconium ileus mutation |
(T;T) | 0 | common in clinvar |
Make rs587776905(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 14672883 |
Gene | C12orf60, GUCY2C |
is a | snp |
is | mentioned by |
dbSNP | rs587776905 |
dbSNP (classic) | rs587776905 |
ClinGen | rs587776905 |
ebi | rs587776905 |
HLI | rs587776905 |
Exac | rs587776905 |
Gnomad | rs587776905 |
Varsome | rs587776905 |
LitVar | rs587776905 |
Map | rs587776905 |
PheGenI | rs587776905 |
Biobank | rs587776905 |
1000 genomes | rs587776905 |
hgdp | rs587776905 |
ensembl | rs587776905 |
geneview | rs587776905 |
scholar | rs587776905 |
rs587776905 | |
pharmgkb | rs587776905 |
gwascentral | rs587776905 |
openSNP | rs587776905 |
23andMe | rs587776905 |
SNPshot | rs587776905 |
SNPdbe | rs587776905 |
MSV3d | rs587776905 |
GWAS Ctlg | rs587776905 |
Max Magnitude | 3 |
aka c.1160A>G (p.Asp387Gly or D387G)
ClinVar | |
---|---|
Risk | rs587776905(C;C) |
Alt | rs587776905(C;C) |
Reference | Rs587776905(T;T) |
Significance | Pathogenic |
Disease | Meconium ileus |
Variation | info |
Gene | GUCY2C |
CLNDBN | Meconium ileus |
Reversed | 0 |
HGVS | NC_000012.11:g.14825817T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024308.2, |