rs1057517683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057517683(C;T) |
Make rs1057517683(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 17392121 |
Gene | PADI6 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517683 |
dbSNP (classic) | rs1057517683 |
ClinGen | rs1057517683 |
ebi | rs1057517683 |
HLI | rs1057517683 |
Exac | rs1057517683 |
Gnomad | rs1057517683 |
Varsome | rs1057517683 |
LitVar | rs1057517683 |
Map | rs1057517683 |
PheGenI | rs1057517683 |
Biobank | rs1057517683 |
1000 genomes | rs1057517683 |
hgdp | rs1057517683 |
ensembl | rs1057517683 |
geneview | rs1057517683 |
scholar | rs1057517683 |
rs1057517683 | |
pharmgkb | rs1057517683 |
gwascentral | rs1057517683 |
openSNP | rs1057517683 |
23andMe | rs1057517683 |
SNPshot | rs1057517683 |
SNPdbe | rs1057517683 |
MSV3d | rs1057517683 |
GWAS Ctlg | rs1057517683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517683(T;T) |
Alt | rs1057517683(T;T) |
Reference | Rs1057517683(C;C) |
Significance | Pathogenic |
Disease | Preimplantation embryonic lethality 2 |
Variation | info |
Gene | PADI6 |
CLNDBN | Preimplantation embryonic lethality 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.17718616C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412549.1, |