rs769193201
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769193201(A;A) |
Make rs769193201(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 155318292 |
Gene | FDPS |
is a | snp |
is | mentioned by |
dbSNP | rs769193201 |
dbSNP (classic) | rs769193201 |
ClinGen | rs769193201 |
ebi | rs769193201 |
HLI | rs769193201 |
Exac | rs769193201 |
Gnomad | rs769193201 |
Varsome | rs769193201 |
LitVar | rs769193201 |
Map | rs769193201 |
PheGenI | rs769193201 |
Biobank | rs769193201 |
1000 genomes | rs769193201 |
hgdp | rs769193201 |
ensembl | rs769193201 |
geneview | rs769193201 |
scholar | rs769193201 |
rs769193201 | |
pharmgkb | rs769193201 |
gwascentral | rs769193201 |
openSNP | rs769193201 |
23andMe | rs769193201 |
SNPshot | rs769193201 |
SNPdbe | rs769193201 |
MSV3d | rs769193201 |
GWAS Ctlg | rs769193201 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769193201(A;A) rs769193201(T;T) |
Alt | rs769193201(A;A) rs769193201(T;T) |
Reference | Rs769193201(G;G) |
Significance | Pathogenic |
Disease | Porokeratosis 9 |
Variation | info |
Gene | FDPS |
CLNDBN | Porokeratosis 9, multiple types |
Reversed | 0 |
HGVS | NC_000001.10:g.155288083G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201790.4, |