rs796065045
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs796065045(A;T) |
Make rs796065045(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 15161381 |
Gene | NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs796065045 |
dbSNP (classic) | rs796065045 |
ClinGen | rs796065045 |
ebi | rs796065045 |
HLI | rs796065045 |
Exac | rs796065045 |
Gnomad | rs796065045 |
Varsome | rs796065045 |
LitVar | rs796065045 |
Map | rs796065045 |
PheGenI | rs796065045 |
Biobank | rs796065045 |
1000 genomes | rs796065045 |
hgdp | rs796065045 |
ensembl | rs796065045 |
geneview | rs796065045 |
scholar | rs796065045 |
rs796065045 | |
pharmgkb | rs796065045 |
gwascentral | rs796065045 |
openSNP | rs796065045 |
23andMe | rs796065045 |
SNPshot | rs796065045 |
SNPdbe | rs796065045 |
MSV3d | rs796065045 |
GWAS Ctlg | rs796065045 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065045(T;T) |
Alt | rs796065045(T;T) |
Reference | Rs796065045(A;A) |
Significance | Pathogenic |
Disease | Lehman syndrome |
Variation | info |
Gene | NOTCH3 |
CLNDBN | Lehman syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.15272192T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190331.4, |