rs869312876
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869312876(-;A) |
Make rs869312876(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 70661636 |
Gene | SHANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs869312876 |
dbSNP (classic) | rs869312876 |
ClinGen | rs869312876 |
ebi | rs869312876 |
HLI | rs869312876 |
Exac | rs869312876 |
Gnomad | rs869312876 |
Varsome | rs869312876 |
LitVar | rs869312876 |
Map | rs869312876 |
PheGenI | rs869312876 |
Biobank | rs869312876 |
1000 genomes | rs869312876 |
hgdp | rs869312876 |
ensembl | rs869312876 |
geneview | rs869312876 |
scholar | rs869312876 |
rs869312876 | |
pharmgkb | rs869312876 |
gwascentral | rs869312876 |
openSNP | rs869312876 |
23andMe | rs869312876 |
SNPshot | rs869312876 |
SNPdbe | rs869312876 |
MSV3d | rs869312876 |
GWAS Ctlg | rs869312876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312876(A;A) |
Alt | rs869312876(A;A) |
Reference | Rs869312876(-;-) |
Significance | Pathogenic |
Disease | Autism 17 |
Variation | info |
Gene | SHANK2 |
CLNDBN | Autism 17 |
Reversed | 1 |
HGVS | NC_000011.9:g.70507741dupT |
CLNSRC | |
CLNACC | RCV000209931.2, |