rs1057517676
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057517676(C;C) |
Make rs1057517676(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 74674964 |
Gene | EDC3 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517676 |
dbSNP (classic) | rs1057517676 |
ClinGen | rs1057517676 |
ebi | rs1057517676 |
HLI | rs1057517676 |
Exac | rs1057517676 |
Gnomad | rs1057517676 |
Varsome | rs1057517676 |
LitVar | rs1057517676 |
Map | rs1057517676 |
PheGenI | rs1057517676 |
Biobank | rs1057517676 |
1000 genomes | rs1057517676 |
hgdp | rs1057517676 |
ensembl | rs1057517676 |
geneview | rs1057517676 |
scholar | rs1057517676 |
rs1057517676 | |
pharmgkb | rs1057517676 |
gwascentral | rs1057517676 |
openSNP | rs1057517676 |
23andMe | rs1057517676 |
SNPshot | rs1057517676 |
SNPdbe | rs1057517676 |
MSV3d | rs1057517676 |
GWAS Ctlg | rs1057517676 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517676(C;C) |
Alt | rs1057517676(C;C) |
Reference | Rs1057517676(T;T) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | EDC3 |
CLNDBN | Mental retardation, autosomal recessive 50 |
Reversed | 1 |
HGVS | NC_000015.9:g.74967305A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412560.1, |