rs2070080
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2070080(C;T) |
Make rs2070080(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 241500525 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs2070080 |
dbSNP (classic) | rs2070080 |
ClinGen | rs2070080 |
ebi | rs2070080 |
HLI | rs2070080 |
Exac | rs2070080 |
Gnomad | rs2070080 |
Varsome | rs2070080 |
LitVar | rs2070080 |
Map | rs2070080 |
PheGenI | rs2070080 |
Biobank | rs2070080 |
1000 genomes | rs2070080 |
hgdp | rs2070080 |
ensembl | rs2070080 |
geneview | rs2070080 |
scholar | rs2070080 |
rs2070080 | |
pharmgkb | rs2070080 |
gwascentral | rs2070080 |
openSNP | rs2070080 |
23andMe | rs2070080 |
SNPshot | rs2070080 |
SNPdbe | rs2070080 |
MSV3d | rs2070080 |
GWAS Ctlg | rs2070080 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs2070080(A;A) rs2070080(T;T) |
Alt | rs2070080(A;A) rs2070080(T;T) |
Reference | Rs2070080(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Multiple Cutaneous and Uterine Leiomyomas not provided |
Variation | info |
Gene | FH |
CLNDBN | not specified Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Multiple Cutaneous and Uterine Leiomyomas not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.241663825G>A; NC_000001.10:g.241663825G>T |
CLNSRC | |
CLNACC | RCV000125104.1, RCV000163275.1, RCV000292482.1, RCV000338010.1, RCV000386787.1, RCV000413968.1, |