rs146559223
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146559223(A;A) |
Make rs146559223(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 19507454 |
Gene | CDC45 |
is a | snp |
is | mentioned by |
dbSNP | rs146559223 |
dbSNP (classic) | rs146559223 |
ClinGen | rs146559223 |
ebi | rs146559223 |
HLI | rs146559223 |
Exac | rs146559223 |
Gnomad | rs146559223 |
Varsome | rs146559223 |
LitVar | rs146559223 |
Map | rs146559223 |
PheGenI | rs146559223 |
Biobank | rs146559223 |
1000 genomes | rs146559223 |
hgdp | rs146559223 |
ensembl | rs146559223 |
geneview | rs146559223 |
scholar | rs146559223 |
rs146559223 | |
pharmgkb | rs146559223 |
gwascentral | rs146559223 |
openSNP | rs146559223 |
23andMe | rs146559223 |
SNPshot | rs146559223 |
SNPdbe | rs146559223 |
MSV3d | rs146559223 |
GWAS Ctlg | rs146559223 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146559223(A;A) rs146559223(T;T) |
Alt | rs146559223(A;A) rs146559223(T;T) |
Reference | Rs146559223(C;C) |
Significance | Pathogenic |
Disease | Meier-gorlin syndrome 7 |
Variation | info |
Gene | CDC45 |
CLNDBN | Meier-gorlin syndrome 7 |
Reversed | 0 |
HGVS | NC_000022.10:g.19494977C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239581.2, |