rs1060500907
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGCAG;AGCAG) | 0 | common in clinvar |
Make rs1060500907(-;-) |
Make rs1060500907(-;AGCAG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 241497873 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs1060500907 |
dbSNP (classic) | rs1060500907 |
ClinGen | rs1060500907 |
ebi | rs1060500907 |
HLI | rs1060500907 |
Exac | rs1060500907 |
Gnomad | rs1060500907 |
Varsome | rs1060500907 |
LitVar | rs1060500907 |
Map | rs1060500907 |
PheGenI | rs1060500907 |
Biobank | rs1060500907 |
1000 genomes | rs1060500907 |
hgdp | rs1060500907 |
ensembl | rs1060500907 |
geneview | rs1060500907 |
scholar | rs1060500907 |
rs1060500907 | |
pharmgkb | rs1060500907 |
gwascentral | rs1060500907 |
openSNP | rs1060500907 |
23andMe | rs1060500907 |
SNPshot | rs1060500907 |
SNPdbe | rs1060500907 |
MSV3d | rs1060500907 |
GWAS Ctlg | rs1060500907 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500907(-;-) |
Alt | rs1060500907(-;-) |
Reference | Rs1060500907(AGCAG;AGCAG) |
Significance | Probable-Pathogenic |
Disease | Fumarase deficiency |
Variation | info |
Gene | FH |
CLNDBN | Fumarase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.241661173_241661177delCTGCT |
CLNSRC | |
CLNACC | RCV000472606.1, |