rs398122956
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs398122956(-;-) |
Make rs398122956(-;TC) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 125491334 |
Gene | FAT4 |
is a | snp |
is | mentioned by |
dbSNP | rs398122956 |
dbSNP (classic) | rs398122956 |
ClinGen | rs398122956 |
ebi | rs398122956 |
HLI | rs398122956 |
Exac | rs398122956 |
Gnomad | rs398122956 |
Varsome | rs398122956 |
LitVar | rs398122956 |
Map | rs398122956 |
PheGenI | rs398122956 |
Biobank | rs398122956 |
1000 genomes | rs398122956 |
hgdp | rs398122956 |
ensembl | rs398122956 |
geneview | rs398122956 |
scholar | rs398122956 |
rs398122956 | |
pharmgkb | rs398122956 |
gwascentral | rs398122956 |
openSNP | rs398122956 |
23andMe | rs398122956 |
SNPshot | rs398122956 |
SNPdbe | rs398122956 |
MSV3d | rs398122956 |
GWAS Ctlg | rs398122956 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122956(-;-) |
Alt | rs398122956(-;-) |
Reference | Rs398122956(TC;TC) |
Significance | Pathogenic |
Disease | Van Maldergem syndrome 2 |
Variation | info |
Gene | FAT4 |
CLNDBN | Van Maldergem syndrome 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.126412489_126412490delTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074492.5, |