rs142328166
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142328166(A;A) |
Make rs142328166(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 6085276 |
Gene | FERMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs142328166 |
dbSNP (classic) | rs142328166 |
ClinGen | rs142328166 |
ebi | rs142328166 |
HLI | rs142328166 |
Exac | rs142328166 |
Gnomad | rs142328166 |
Varsome | rs142328166 |
LitVar | rs142328166 |
Map | rs142328166 |
PheGenI | rs142328166 |
Biobank | rs142328166 |
1000 genomes | rs142328166 |
hgdp | rs142328166 |
ensembl | rs142328166 |
geneview | rs142328166 |
scholar | rs142328166 |
rs142328166 | |
pharmgkb | rs142328166 |
gwascentral | rs142328166 |
openSNP | rs142328166 |
23andMe | rs142328166 |
SNPshot | rs142328166 |
SNPdbe | rs142328166 |
MSV3d | rs142328166 |
GWAS Ctlg | rs142328166 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142328166(A;A) rs142328166(T;T) |
Alt | rs142328166(A;A) rs142328166(T;T) |
Reference | Rs142328166(G;G) |
Significance | Pathogenic |
Disease | Kindler's syndrome |
Variation | info |
Gene | FERMT1 |
CLNDBN | Kindler's syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.6065923G>T |
CLNSRC | |
CLNACC | RCV000209856.1, |