rs869312731
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312731(A;A) |
Make rs869312731(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 6079448 |
Gene | FERMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312731 |
dbSNP (classic) | rs869312731 |
ClinGen | rs869312731 |
ebi | rs869312731 |
HLI | rs869312731 |
Exac | rs869312731 |
Gnomad | rs869312731 |
Varsome | rs869312731 |
LitVar | rs869312731 |
Map | rs869312731 |
PheGenI | rs869312731 |
Biobank | rs869312731 |
1000 genomes | rs869312731 |
hgdp | rs869312731 |
ensembl | rs869312731 |
geneview | rs869312731 |
scholar | rs869312731 |
rs869312731 | |
pharmgkb | rs869312731 |
gwascentral | rs869312731 |
openSNP | rs869312731 |
23andMe | rs869312731 |
SNPshot | rs869312731 |
SNPdbe | rs869312731 |
MSV3d | rs869312731 |
GWAS Ctlg | rs869312731 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312731(A;A) |
Alt | rs869312731(A;A) |
Reference | Rs869312731(G;G) |
Significance | Pathogenic |
Disease | Kindler's syndrome |
Variation | info |
Gene | FERMT1 |
CLNDBN | Kindler's syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.6060095C>T |
CLNSRC | |
CLNACC | RCV000209891.1, |