rs869312729
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869312729(-;-) |
Make rs869312729(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 6089068 |
Gene | FERMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312729 |
dbSNP (classic) | rs869312729 |
ClinGen | rs869312729 |
ebi | rs869312729 |
HLI | rs869312729 |
Exac | rs869312729 |
Gnomad | rs869312729 |
Varsome | rs869312729 |
LitVar | rs869312729 |
Map | rs869312729 |
PheGenI | rs869312729 |
Biobank | rs869312729 |
1000 genomes | rs869312729 |
hgdp | rs869312729 |
ensembl | rs869312729 |
geneview | rs869312729 |
scholar | rs869312729 |
rs869312729 | |
pharmgkb | rs869312729 |
gwascentral | rs869312729 |
openSNP | rs869312729 |
23andMe | rs869312729 |
SNPshot | rs869312729 |
SNPdbe | rs869312729 |
MSV3d | rs869312729 |
GWAS Ctlg | rs869312729 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312729(-;-) |
Alt | rs869312729(-;-) |
Reference | Rs869312729(A;A) |
Significance | Pathogenic |
Disease | Kindler's syndrome |
Variation | info |
Gene | FERMT1 |
CLNDBN | Kindler's syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.6069715delT |
CLNSRC | |
CLNACC | RCV000209879.1, |