rs748749078
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs748749078(C;T) |
Make rs748749078(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 19482818 |
Gene | CDC45 |
is a | snp |
is | mentioned by |
dbSNP | rs748749078 |
dbSNP (classic) | rs748749078 |
ClinGen | rs748749078 |
ebi | rs748749078 |
HLI | rs748749078 |
Exac | rs748749078 |
Gnomad | rs748749078 |
Varsome | rs748749078 |
LitVar | rs748749078 |
Map | rs748749078 |
PheGenI | rs748749078 |
Biobank | rs748749078 |
1000 genomes | rs748749078 |
hgdp | rs748749078 |
ensembl | rs748749078 |
geneview | rs748749078 |
scholar | rs748749078 |
rs748749078 | |
pharmgkb | rs748749078 |
gwascentral | rs748749078 |
openSNP | rs748749078 |
23andMe | rs748749078 |
SNPshot | rs748749078 |
SNPdbe | rs748749078 |
MSV3d | rs748749078 |
GWAS Ctlg | rs748749078 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748749078(T;T) |
Alt | rs748749078(T;T) |
Reference | Rs748749078(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.19470341C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239531.2, |