rs199682210
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199682210(C;T) |
Make rs199682210(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 125487373 |
Gene | FAT4 |
is a | snp |
is | mentioned by |
dbSNP | rs199682210 |
dbSNP (classic) | rs199682210 |
ClinGen | rs199682210 |
ebi | rs199682210 |
HLI | rs199682210 |
Exac | rs199682210 |
Gnomad | rs199682210 |
Varsome | rs199682210 |
LitVar | rs199682210 |
Map | rs199682210 |
PheGenI | rs199682210 |
Biobank | rs199682210 |
1000 genomes | rs199682210 |
hgdp | rs199682210 |
ensembl | rs199682210 |
geneview | rs199682210 |
scholar | rs199682210 |
rs199682210 | |
pharmgkb | rs199682210 |
gwascentral | rs199682210 |
openSNP | rs199682210 |
23andMe | rs199682210 |
SNPshot | rs199682210 |
SNPdbe | rs199682210 |
MSV3d | rs199682210 |
GWAS Ctlg | rs199682210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199682210(T;T) |
Alt | rs199682210(T;T) |
Reference | Rs199682210(C;C) |
Significance | Pathogenic |
Disease | Hennekam lymphangiectasia-lymphedema syndrome 2 |
Variation | info |
Gene | FAT4 |
CLNDBN | Hennekam lymphangiectasia-lymphedema syndrome 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.126408528C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144160.4, |