rs1057518050
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAAG;GAAG) | 0 | common in clinvar |
Make rs1057518050(-;-) |
Make rs1057518050(-;GAAG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 37000478 |
Gene | NIPBL |
is a | snp |
is | mentioned by |
dbSNP | rs1057518050 |
dbSNP (classic) | rs1057518050 |
ClinGen | rs1057518050 |
ebi | rs1057518050 |
HLI | rs1057518050 |
Exac | rs1057518050 |
Gnomad | rs1057518050 |
Varsome | rs1057518050 |
LitVar | rs1057518050 |
Map | rs1057518050 |
PheGenI | rs1057518050 |
Biobank | rs1057518050 |
1000 genomes | rs1057518050 |
hgdp | rs1057518050 |
ensembl | rs1057518050 |
geneview | rs1057518050 |
scholar | rs1057518050 |
rs1057518050 | |
pharmgkb | rs1057518050 |
gwascentral | rs1057518050 |
openSNP | rs1057518050 |
23andMe | rs1057518050 |
SNPshot | rs1057518050 |
SNPdbe | rs1057518050 |
MSV3d | rs1057518050 |
GWAS Ctlg | rs1057518050 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518050(-;-) |
Alt | rs1057518050(-;-) |
Reference | Rs1057518050(GAAG;GAAG) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | NIPBL |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.37000580_37000583delGAAG |
CLNSRC | |
CLNACC | RCV000414589.1, |