rs863223995
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TAAAT) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(TAAAT;TAAAT) | 0 | common in clinvar |
Make rs863223995(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241512123 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs863223995 |
dbSNP (classic) | rs863223995 |
ClinGen | rs863223995 |
ebi | rs863223995 |
HLI | rs863223995 |
Exac | rs863223995 |
Gnomad | rs863223995 |
Varsome | rs863223995 |
LitVar | rs863223995 |
Map | rs863223995 |
PheGenI | rs863223995 |
Biobank | rs863223995 |
1000 genomes | rs863223995 |
hgdp | rs863223995 |
ensembl | rs863223995 |
geneview | rs863223995 |
scholar | rs863223995 |
rs863223995 | |
pharmgkb | rs863223995 |
gwascentral | rs863223995 |
openSNP | rs863223995 |
23andMe | rs863223995 |
SNPshot | rs863223995 |
SNPdbe | rs863223995 |
MSV3d | rs863223995 |
GWAS Ctlg | rs863223995 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs863223995(-;-) |
Alt | rs863223995(-;-) |
Reference | Rs863223995(TAAAT;TAAAT) |
Significance | Pathogenic |
Disease | not provided Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241675423_241675427delATTTA |
CLNSRC | |
CLNACC | RCV000195662.2, RCV000445600.1, |