rs1060500896
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060500896(A;A) |
Make rs1060500896(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 241504098 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs1060500896 |
dbSNP (classic) | rs1060500896 |
ClinGen | rs1060500896 |
ebi | rs1060500896 |
HLI | rs1060500896 |
Exac | rs1060500896 |
Gnomad | rs1060500896 |
Varsome | rs1060500896 |
LitVar | rs1060500896 |
Map | rs1060500896 |
PheGenI | rs1060500896 |
Biobank | rs1060500896 |
1000 genomes | rs1060500896 |
hgdp | rs1060500896 |
ensembl | rs1060500896 |
geneview | rs1060500896 |
scholar | rs1060500896 |
rs1060500896 | |
pharmgkb | rs1060500896 |
gwascentral | rs1060500896 |
openSNP | rs1060500896 |
23andMe | rs1060500896 |
SNPshot | rs1060500896 |
SNPdbe | rs1060500896 |
MSV3d | rs1060500896 |
GWAS Ctlg | rs1060500896 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500896(A;A) |
Alt | rs1060500896(A;A) |
Reference | Rs1060500896(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Fumarase deficiency |
Variation | info |
Gene | FH |
CLNDBN | Hereditary cancer-predisposing syndrome Fumarase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.241667398G>C; NC_000001.10:g.241667398G>T |
CLNSRC | |
CLNACC | RCV000494465.1, RCV000459166.1, |