rs869312730
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869312730(G;G) |
Make rs869312730(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 6089053 |
Gene | FERMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312730 |
dbSNP (classic) | rs869312730 |
ClinGen | rs869312730 |
ebi | rs869312730 |
HLI | rs869312730 |
Exac | rs869312730 |
Gnomad | rs869312730 |
Varsome | rs869312730 |
LitVar | rs869312730 |
Map | rs869312730 |
PheGenI | rs869312730 |
Biobank | rs869312730 |
1000 genomes | rs869312730 |
hgdp | rs869312730 |
ensembl | rs869312730 |
geneview | rs869312730 |
scholar | rs869312730 |
rs869312730 | |
pharmgkb | rs869312730 |
gwascentral | rs869312730 |
openSNP | rs869312730 |
23andMe | rs869312730 |
SNPshot | rs869312730 |
SNPdbe | rs869312730 |
MSV3d | rs869312730 |
GWAS Ctlg | rs869312730 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312730(G;G) |
Alt | rs869312730(G;G) |
Reference | Rs869312730(T;T) |
Significance | Pathogenic |
Disease | Kindler's syndrome |
Variation | info |
Gene | FERMT1 |
CLNDBN | Kindler's syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.6069700A>C |
CLNSRC | |
CLNACC | RCV000209929.1, |