rs724159985
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs724159985(-;-) |
Make rs724159985(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 68679937 |
Gene | CDH3 |
is a | snp |
is | mentioned by |
dbSNP | rs724159985 |
dbSNP (classic) | rs724159985 |
ClinGen | rs724159985 |
ebi | rs724159985 |
HLI | rs724159985 |
Exac | rs724159985 |
Gnomad | rs724159985 |
Varsome | rs724159985 |
LitVar | rs724159985 |
Map | rs724159985 |
PheGenI | rs724159985 |
Biobank | rs724159985 |
1000 genomes | rs724159985 |
hgdp | rs724159985 |
ensembl | rs724159985 |
geneview | rs724159985 |
scholar | rs724159985 |
rs724159985 | |
pharmgkb | rs724159985 |
gwascentral | rs724159985 |
openSNP | rs724159985 |
23andMe | rs724159985 |
SNPshot | rs724159985 |
SNPdbe | rs724159985 |
MSV3d | rs724159985 |
GWAS Ctlg | rs724159985 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159985(-;-) |
Alt | rs724159985(-;-) |
Reference | Rs724159985(G;G) |
Significance | Pathogenic |
Disease | EEM syndrome |
Variation | info |
Gene | CDH3 |
CLNDBN | EEM syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.68713840delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019208.28, |