rs794726974
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794726974(A;A) |
Make rs794726974(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 10649544 |
Gene | JAG1, MIR6870 |
is a | snp |
is | mentioned by |
dbSNP | rs794726974 |
dbSNP (classic) | rs794726974 |
ClinGen | rs794726974 |
ebi | rs794726974 |
HLI | rs794726974 |
Exac | rs794726974 |
Gnomad | rs794726974 |
Varsome | rs794726974 |
LitVar | rs794726974 |
Map | rs794726974 |
PheGenI | rs794726974 |
Biobank | rs794726974 |
1000 genomes | rs794726974 |
hgdp | rs794726974 |
ensembl | rs794726974 |
geneview | rs794726974 |
scholar | rs794726974 |
rs794726974 | |
pharmgkb | rs794726974 |
gwascentral | rs794726974 |
openSNP | rs794726974 |
23andMe | rs794726974 |
SNPshot | rs794726974 |
SNPdbe | rs794726974 |
MSV3d | rs794726974 |
GWAS Ctlg | rs794726974 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726974(A;A) |
Alt | rs794726974(A;A) |
Reference | Rs794726974(G;G) |
Significance | Pathogenic |
Disease | Alagille syndrome 1 |
Variation | info |
Gene | MIR6870 JAG1 |
CLNDBN | Alagille syndrome 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.10630192C>T |
CLNSRC | |
CLNACC | RCV000173659.1, |