rs730882232
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730882232(-;GAAAAAGAAGAACTTTTTGAATGC) |
Make rs730882232(GAAAAAGAAGAACTTTTTGAATGC;GAAAAAGAAGAACTTTTTGAATGC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 5562881 |
Gene | EVC2 |
is a | snp |
is | mentioned by |
dbSNP | rs730882232 |
dbSNP (classic) | rs730882232 |
ClinGen | rs730882232 |
ebi | rs730882232 |
HLI | rs730882232 |
Exac | rs730882232 |
Gnomad | rs730882232 |
Varsome | rs730882232 |
LitVar | rs730882232 |
Map | rs730882232 |
PheGenI | rs730882232 |
Biobank | rs730882232 |
1000 genomes | rs730882232 |
hgdp | rs730882232 |
ensembl | rs730882232 |
geneview | rs730882232 |
scholar | rs730882232 |
rs730882232 | |
pharmgkb | rs730882232 |
gwascentral | rs730882232 |
openSNP | rs730882232 |
23andMe | rs730882232 |
SNPshot | rs730882232 |
SNPdbe | rs730882232 |
MSV3d | rs730882232 |
GWAS Ctlg | rs730882232 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882232(GAAAAAGAAGAACTTTTTGAATGC;GAAAAAGAAGAACTTTTTGAATGC) |
Alt | rs730882232(GAAAAAGAAGAACTTTTTGAATGC;GAAAAAGAAGAACTTTTTGAATGC) |
Reference | Rs730882232(-;-) |
Significance | Probable-Pathogenic |
Disease | Meckel-Gruber syndrome |
Variation | info |
Gene | EVC2 |
CLNDBN | Meckel-Gruber syndrome |
Reversed | 1 |
HGVS | NC_000004.11:g.5564609_5564632dup24 |
CLNSRC | King Faisal Specialist Hospital and Research Center |
CLNACC | RCV000162152.1, |