rs778260156
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5.3 | Basal cell nevus syndrome |
Make rs778260156(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 95467285 |
Gene | LOC100507346, PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs778260156 |
dbSNP (classic) | rs778260156 |
ClinGen | rs778260156 |
ebi | rs778260156 |
HLI | rs778260156 |
Exac | rs778260156 |
Gnomad | rs778260156 |
Varsome | rs778260156 |
LitVar | rs778260156 |
Map | rs778260156 |
PheGenI | rs778260156 |
Biobank | rs778260156 |
1000 genomes | rs778260156 |
hgdp | rs778260156 |
ensembl | rs778260156 |
geneview | rs778260156 |
scholar | rs778260156 |
rs778260156 | |
pharmgkb | rs778260156 |
gwascentral | rs778260156 |
openSNP | rs778260156 |
23andMe | rs778260156 |
SNPshot | rs778260156 |
SNPdbe | rs778260156 |
MSV3d | rs778260156 |
GWAS Ctlg | rs778260156 |
Max Magnitude | 5.3 |
ClinVar | |
---|---|
Risk | rs778260156(A;A) rs778260156(T;T) |
Alt | rs778260156(A;A) rs778260156(T;T) |
Reference | Rs778260156(G;G) |
Significance | Pathogenic |
Disease | Gorlin syndrome |
Variation | info |
Gene | LOC100507346 PTCH1 |
CLNDBN | Gorlin syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.98229567G>T |
CLNSRC | |
CLNACC | RCV000230356.1, |