rs730882220
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730882220(C;T) |
Make rs730882220(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 256001 |
Gene | FAM20C |
is a | snp |
is | mentioned by |
dbSNP | rs730882220 |
dbSNP (classic) | rs730882220 |
ClinGen | rs730882220 |
ebi | rs730882220 |
HLI | rs730882220 |
Exac | rs730882220 |
Gnomad | rs730882220 |
Varsome | rs730882220 |
LitVar | rs730882220 |
Map | rs730882220 |
PheGenI | rs730882220 |
Biobank | rs730882220 |
1000 genomes | rs730882220 |
hgdp | rs730882220 |
ensembl | rs730882220 |
geneview | rs730882220 |
scholar | rs730882220 |
rs730882220 | |
pharmgkb | rs730882220 |
gwascentral | rs730882220 |
openSNP | rs730882220 |
23andMe | rs730882220 |
SNPshot | rs730882220 |
SNPdbe | rs730882220 |
MSV3d | rs730882220 |
GWAS Ctlg | rs730882220 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882220(T;T) |
Alt | rs730882220(T;T) |
Reference | Rs730882220(C;C) |
Significance | Probable-Pathogenic |
Disease | Abnormal facial shape Cortical dysplasia Neonatal death Severe brain malformation |
Variation | info |
Gene | FAM20C |
CLNDBN | Abnormal facial shape Cortical dysplasia Neonatal death Severe brain malformation |
Reversed | 0 |
HGVS | NC_000007.13:g.295967C>T |
CLNSRC | |
CLNACC | RCV000162130.1, |