rs376672665
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs376672665(A;A) |
Make rs376672665(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 70010807 |
Gene | SMOC1 |
is a | snp |
is | mentioned by |
dbSNP | rs376672665 |
dbSNP (classic) | rs376672665 |
ClinGen | rs376672665 |
ebi | rs376672665 |
HLI | rs376672665 |
Exac | rs376672665 |
Gnomad | rs376672665 |
Varsome | rs376672665 |
LitVar | rs376672665 |
Map | rs376672665 |
PheGenI | rs376672665 |
Biobank | rs376672665 |
1000 genomes | rs376672665 |
hgdp | rs376672665 |
ensembl | rs376672665 |
geneview | rs376672665 |
scholar | rs376672665 |
rs376672665 | |
pharmgkb | rs376672665 |
gwascentral | rs376672665 |
openSNP | rs376672665 |
23andMe | rs376672665 |
SNPshot | rs376672665 |
SNPdbe | rs376672665 |
MSV3d | rs376672665 |
GWAS Ctlg | rs376672665 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376672665(A;A) rs376672665(T;T) |
Alt | rs376672665(A;A) rs376672665(T;T) |
Reference | Rs376672665(C;C) |
Significance | Pathogenic |
Disease | Anophthalmos with limb anomalies |
Variation | info |
Gene | SMOC1 |
CLNDBN | Anophthalmos with limb anomalies |
Reversed | 0 |
HGVS | NC_000014.8:g.70477524C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023704.3, |