rs147145234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147145234(G;T) |
Make rs147145234(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 152308647 |
Gene | FLG |
is a | snp |
is | mentioned by |
dbSNP | rs147145234 |
dbSNP (classic) | rs147145234 |
ClinGen | rs147145234 |
ebi | rs147145234 |
HLI | rs147145234 |
Exac | rs147145234 |
Gnomad | rs147145234 |
Varsome | rs147145234 |
LitVar | rs147145234 |
Map | rs147145234 |
PheGenI | rs147145234 |
Biobank | rs147145234 |
1000 genomes | rs147145234 |
hgdp | rs147145234 |
ensembl | rs147145234 |
geneview | rs147145234 |
scholar | rs147145234 |
rs147145234 | |
pharmgkb | rs147145234 |
gwascentral | rs147145234 |
openSNP | rs147145234 |
23andMe | rs147145234 |
SNPshot | rs147145234 |
SNPdbe | rs147145234 |
MSV3d | rs147145234 |
GWAS Ctlg | rs147145234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147145234(T;T) |
Alt | rs147145234(T;T) |
Reference | Rs147145234(G;G) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | FLG |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000001.10:g.152281123G>T |
CLNSRC | |
CLNACC | RCV000210631.1, |