rs778665661
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs778665661(C;T) |
Make rs778665661(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 19518867 |
Gene | CDC45 |
is a | snp |
is | mentioned by |
dbSNP | rs778665661 |
dbSNP (classic) | rs778665661 |
ClinGen | rs778665661 |
ebi | rs778665661 |
HLI | rs778665661 |
Exac | rs778665661 |
Gnomad | rs778665661 |
Varsome | rs778665661 |
LitVar | rs778665661 |
Map | rs778665661 |
PheGenI | rs778665661 |
Biobank | rs778665661 |
1000 genomes | rs778665661 |
hgdp | rs778665661 |
ensembl | rs778665661 |
geneview | rs778665661 |
scholar | rs778665661 |
rs778665661 | |
pharmgkb | rs778665661 |
gwascentral | rs778665661 |
openSNP | rs778665661 |
23andMe | rs778665661 |
SNPshot | rs778665661 |
SNPdbe | rs778665661 |
MSV3d | rs778665661 |
GWAS Ctlg | rs778665661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778665661(T;T) |
Alt | rs778665661(T;T) |
Reference | Rs778665661(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.19506390C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239595.2, |