rs387906943
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906943(A;A) |
Make rs387906943(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 43736300 |
Gene | ST3GAL3 |
is a | snp |
is | mentioned by |
dbSNP | rs387906943 |
dbSNP (classic) | rs387906943 |
ClinGen | rs387906943 |
ebi | rs387906943 |
HLI | rs387906943 |
Exac | rs387906943 |
Gnomad | rs387906943 |
Varsome | rs387906943 |
LitVar | rs387906943 |
Map | rs387906943 |
PheGenI | rs387906943 |
Biobank | rs387906943 |
1000 genomes | rs387906943 |
hgdp | rs387906943 |
ensembl | rs387906943 |
geneview | rs387906943 |
scholar | rs387906943 |
rs387906943 | |
pharmgkb | rs387906943 |
gwascentral | rs387906943 |
openSNP | rs387906943 |
23andMe | rs387906943 |
SNPshot | rs387906943 |
SNPdbe | rs387906943 |
MSV3d | rs387906943 |
GWAS Ctlg | rs387906943 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906943(A;A) |
Alt | rs387906943(A;A) |
Reference | Rs387906943(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | ST3GAL3 |
CLNDBN | Mental retardation, autosomal recessive 12 |
Reversed | 0 |
HGVS | NC_000001.10:g.44201971C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023551.2, |