rs146180696
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs146180696(A;A) |
Make rs146180696(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 6097571 |
Gene | FERMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs146180696 |
dbSNP (classic) | rs146180696 |
ClinGen | rs146180696 |
ebi | rs146180696 |
HLI | rs146180696 |
Exac | rs146180696 |
Gnomad | rs146180696 |
Varsome | rs146180696 |
LitVar | rs146180696 |
Map | rs146180696 |
PheGenI | rs146180696 |
Biobank | rs146180696 |
1000 genomes | rs146180696 |
hgdp | rs146180696 |
ensembl | rs146180696 |
geneview | rs146180696 |
scholar | rs146180696 |
rs146180696 | |
pharmgkb | rs146180696 |
gwascentral | rs146180696 |
openSNP | rs146180696 |
23andMe | rs146180696 |
SNPshot | rs146180696 |
SNPdbe | rs146180696 |
MSV3d | rs146180696 |
GWAS Ctlg | rs146180696 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146180696(A;A) |
Alt | rs146180696(A;A) |
Reference | Rs146180696(C;C) |
Significance | Pathogenic |
Disease | Kindler's syndrome |
Variation | info |
Gene | FERMT1 |
CLNDBN | Kindler's syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.6078218C>A |
CLNSRC | |
CLNACC | RCV000209869.2, |