rs1057517952
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTG;TTG) | 0 | common in clinvar |
Make rs1057517952(-;-) |
Make rs1057517952(-;GTT) |
Make rs1057517952(GTT;GTT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 63415878 |
Gene | ALG6 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517952 |
dbSNP (classic) | rs1057517952 |
ClinGen | rs1057517952 |
ebi | rs1057517952 |
HLI | rs1057517952 |
Exac | rs1057517952 |
Gnomad | rs1057517952 |
Varsome | rs1057517952 |
LitVar | rs1057517952 |
Map | rs1057517952 |
PheGenI | rs1057517952 |
Biobank | rs1057517952 |
1000 genomes | rs1057517952 |
hgdp | rs1057517952 |
ensembl | rs1057517952 |
geneview | rs1057517952 |
scholar | rs1057517952 |
rs1057517952 | |
pharmgkb | rs1057517952 |
gwascentral | rs1057517952 |
openSNP | rs1057517952 |
23andMe | rs1057517952 |
SNPshot | rs1057517952 |
SNPdbe | rs1057517952 |
MSV3d | rs1057517952 |
GWAS Ctlg | rs1057517952 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517952(-;-) |
Alt | rs1057517952(-;-) |
Reference | Rs1057517952(TTG;TTG) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ALG6 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.63881549_63881551delGTT |
CLNSRC | |
CLNACC | RCV000412711.1, |