rs786205680
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205680(C;T) |
Make rs786205680(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 132934293 |
Gene | AFF4 |
is a | snp |
is | mentioned by |
dbSNP | rs786205680 |
dbSNP (classic) | rs786205680 |
ClinGen | rs786205680 |
ebi | rs786205680 |
HLI | rs786205680 |
Exac | rs786205680 |
Gnomad | rs786205680 |
Varsome | rs786205680 |
LitVar | rs786205680 |
Map | rs786205680 |
PheGenI | rs786205680 |
Biobank | rs786205680 |
1000 genomes | rs786205680 |
hgdp | rs786205680 |
ensembl | rs786205680 |
geneview | rs786205680 |
scholar | rs786205680 |
rs786205680 | |
pharmgkb | rs786205680 |
gwascentral | rs786205680 |
openSNP | rs786205680 |
23andMe | rs786205680 |
SNPshot | rs786205680 |
SNPdbe | rs786205680 |
MSV3d | rs786205680 |
GWAS Ctlg | rs786205680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205680(T;T) |
Alt | rs786205680(T;T) |
Reference | Rs786205680(C;C) |
Significance | Pathogenic |
Disease | Chops syndrome not provided |
Variation | info |
Gene | AFF4 |
CLNDBN | Chops syndrome not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.132269985G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170517.3, RCV000485909.1, |