rs1047747
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1047747(A;A) |
Make rs1047747(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 5084828 |
Gene | ALG1, EEF2KMT |
is a | snp |
is | mentioned by |
dbSNP | rs1047747 |
dbSNP (classic) | rs1047747 |
ClinGen | rs1047747 |
ebi | rs1047747 |
HLI | rs1047747 |
Exac | rs1047747 |
Gnomad | rs1047747 |
Varsome | rs1047747 |
LitVar | rs1047747 |
Map | rs1047747 |
PheGenI | rs1047747 |
Biobank | rs1047747 |
1000 genomes | rs1047747 |
hgdp | rs1047747 |
ensembl | rs1047747 |
geneview | rs1047747 |
scholar | rs1047747 |
rs1047747 | |
pharmgkb | rs1047747 |
gwascentral | rs1047747 |
openSNP | rs1047747 |
23andMe | rs1047747 |
SNPshot | rs1047747 |
SNPdbe | rs1047747 |
MSV3d | rs1047747 |
GWAS Ctlg | rs1047747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1047747(A;A) |
Alt | rs1047747(A;A) |
Reference | Rs1047747(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ALG1 FAM86A EEF2KMT |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.5134829C>T |
CLNSRC | |
CLNACC | RCV000430761.1, |