rs866141540
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs866141540(-;-) |
Make rs866141540(-;GT) |
Make rs866141540(GT;GT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 6096996 |
Gene | FERMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs866141540 |
dbSNP (classic) | rs866141540 |
ClinGen | rs866141540 |
ebi | rs866141540 |
HLI | rs866141540 |
Exac | rs866141540 |
Gnomad | rs866141540 |
Varsome | rs866141540 |
LitVar | rs866141540 |
Map | rs866141540 |
PheGenI | rs866141540 |
Biobank | rs866141540 |
1000 genomes | rs866141540 |
hgdp | rs866141540 |
ensembl | rs866141540 |
geneview | rs866141540 |
scholar | rs866141540 |
rs866141540 | |
pharmgkb | rs866141540 |
gwascentral | rs866141540 |
openSNP | rs866141540 |
23andMe | rs866141540 |
SNPshot | rs866141540 |
SNPdbe | rs866141540 |
MSV3d | rs866141540 |
GWAS Ctlg | rs866141540 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs866141540(-;-) |
Alt | rs866141540(-;-) |
Reference | Rs866141540(TG;TG) |
Significance | Pathogenic |
Disease | Kindler's syndrome |
Variation | info |
Gene | FERMT1 |
CLNDBN | Kindler's syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.6077643_6077644delTG |
CLNSRC | |
CLNACC | RCV000209882.1, |