rs199505265
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199505265(A;A) |
Make rs199505265(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 10646998 |
Gene | JAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs199505265 |
dbSNP (classic) | rs199505265 |
ClinGen | rs199505265 |
ebi | rs199505265 |
HLI | rs199505265 |
Exac | rs199505265 |
Gnomad | rs199505265 |
Varsome | rs199505265 |
LitVar | rs199505265 |
Map | rs199505265 |
PheGenI | rs199505265 |
Biobank | rs199505265 |
1000 genomes | rs199505265 |
hgdp | rs199505265 |
ensembl | rs199505265 |
geneview | rs199505265 |
scholar | rs199505265 |
rs199505265 | |
pharmgkb | rs199505265 |
gwascentral | rs199505265 |
openSNP | rs199505265 |
23andMe | rs199505265 |
SNPshot | rs199505265 |
SNPdbe | rs199505265 |
MSV3d | rs199505265 |
GWAS Ctlg | rs199505265 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199505265(A;A) |
Alt | rs199505265(A;A) |
Reference | Rs199505265(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Isolated Nonsyndromic Congenital Heart Disease Arteriohepatic dysplasia |
Variation | info |
Gene | JAG1 |
CLNDBN | not provided Isolated Nonsyndromic Congenital Heart Disease Arteriohepatic dysplasia |
Reversed | 0 |
HGVS | NC_000020.10:g.10627646G>A |
CLNSRC | |
CLNACC | RCV000197189.2, RCV000351515.1, RCV000390881.1, |