rs387906546
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Associated with leiomyomatosis and possibly renal cell cancer |
Make rs387906546(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 241517258 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs387906546 |
dbSNP (classic) | rs387906546 |
ClinGen | rs387906546 |
ebi | rs387906546 |
HLI | rs387906546 |
Exac | rs387906546 |
Gnomad | rs387906546 |
Varsome | rs387906546 |
LitVar | rs387906546 |
Map | rs387906546 |
PheGenI | rs387906546 |
Biobank | rs387906546 |
1000 genomes | rs387906546 |
hgdp | rs387906546 |
ensembl | rs387906546 |
geneview | rs387906546 |
scholar | rs387906546 |
rs387906546 | |
pharmgkb | rs387906546 |
gwascentral | rs387906546 |
openSNP | rs387906546 |
23andMe | rs387906546 |
SNPshot | rs387906546 |
SNPdbe | rs387906546 |
MSV3d | rs387906546 |
GWAS Ctlg | rs387906546 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs387906546(C;C) |
Alt | rs387906546(C;C) |
Reference | Rs387906546(A;A) |
Significance | Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241680558T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017620.26, |