rs1057519297
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057519297(-;AT) |
Make rs1057519297(AT;AT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 112646362 |
Gene | LARP7 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519297 |
dbSNP (classic) | rs1057519297 |
ClinGen | rs1057519297 |
ebi | rs1057519297 |
HLI | rs1057519297 |
Exac | rs1057519297 |
Gnomad | rs1057519297 |
Varsome | rs1057519297 |
LitVar | rs1057519297 |
Map | rs1057519297 |
PheGenI | rs1057519297 |
Biobank | rs1057519297 |
1000 genomes | rs1057519297 |
hgdp | rs1057519297 |
ensembl | rs1057519297 |
geneview | rs1057519297 |
scholar | rs1057519297 |
rs1057519297 | |
pharmgkb | rs1057519297 |
gwascentral | rs1057519297 |
openSNP | rs1057519297 |
23andMe | rs1057519297 |
SNPshot | rs1057519297 |
SNPdbe | rs1057519297 |
MSV3d | rs1057519297 |
GWAS Ctlg | rs1057519297 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519297(AT;AT) |
Alt | rs1057519297(AT;AT) |
Reference | Rs1057519297(-;-) |
Significance | Pathogenic |
Disease | Alazami syndrome |
Variation | info |
Gene | LARP7 |
CLNDBN | Alazami syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.113567517_113567518dupAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415594.1, |