rs869025270
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869025270(A;C) |
Make rs869025270(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 95467344 |
Gene | LOC100507346, PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025270 |
dbSNP (classic) | rs869025270 |
ClinGen | rs869025270 |
ebi | rs869025270 |
HLI | rs869025270 |
Exac | rs869025270 |
Gnomad | rs869025270 |
Varsome | rs869025270 |
LitVar | rs869025270 |
Map | rs869025270 |
PheGenI | rs869025270 |
Biobank | rs869025270 |
1000 genomes | rs869025270 |
hgdp | rs869025270 |
ensembl | rs869025270 |
geneview | rs869025270 |
scholar | rs869025270 |
rs869025270 | |
pharmgkb | rs869025270 |
gwascentral | rs869025270 |
openSNP | rs869025270 |
23andMe | rs869025270 |
SNPshot | rs869025270 |
SNPdbe | rs869025270 |
MSV3d | rs869025270 |
GWAS Ctlg | rs869025270 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025270(C;C) |
Alt | rs869025270(C;C) |
Reference | Rs869025270(A;A) |
Significance | Probable-Pathogenic |
Disease | Anophthalmia - microphthalmia |
Variation | info |
Gene | LOC100507346 PTCH1 |
CLNDBN | Anophthalmia - microphthalmia |
Reversed | 1 |
HGVS | NC_000009.11:g.98229626T>G |
CLNSRC | |
CLNACC | RCV000207370.1, |