rs748507111
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748507111(C;T) |
Make rs748507111(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 206771265 |
Gene | FASTKD2 |
is a | snp |
is | mentioned by |
dbSNP | rs748507111 |
dbSNP (classic) | rs748507111 |
ClinGen | rs748507111 |
ebi | rs748507111 |
HLI | rs748507111 |
Exac | rs748507111 |
Gnomad | rs748507111 |
Varsome | rs748507111 |
LitVar | rs748507111 |
Map | rs748507111 |
PheGenI | rs748507111 |
Biobank | rs748507111 |
1000 genomes | rs748507111 |
hgdp | rs748507111 |
ensembl | rs748507111 |
geneview | rs748507111 |
scholar | rs748507111 |
rs748507111 | |
pharmgkb | rs748507111 |
gwascentral | rs748507111 |
openSNP | rs748507111 |
23andMe | rs748507111 |
SNPshot | rs748507111 |
SNPdbe | rs748507111 |
MSV3d | rs748507111 |
GWAS Ctlg | rs748507111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748507111(G;G) rs748507111(T;T) |
Alt | rs748507111(G;G) rs748507111(T;T) |
Reference | Rs748507111(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | FASTKD2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.207635989C>T |
CLNSRC | |
CLNACC | RCV000196278.2, |