rs1057518991
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057518991(C;T) |
Make rs1057518991(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 50894041 |
Gene | ADNP |
is a | snp |
is | mentioned by |
dbSNP | rs1057518991 |
dbSNP (classic) | rs1057518991 |
ClinGen | rs1057518991 |
ebi | rs1057518991 |
HLI | rs1057518991 |
Exac | rs1057518991 |
Gnomad | rs1057518991 |
Varsome | rs1057518991 |
LitVar | rs1057518991 |
Map | rs1057518991 |
PheGenI | rs1057518991 |
Biobank | rs1057518991 |
1000 genomes | rs1057518991 |
hgdp | rs1057518991 |
ensembl | rs1057518991 |
geneview | rs1057518991 |
scholar | rs1057518991 |
rs1057518991 | |
pharmgkb | rs1057518991 |
gwascentral | rs1057518991 |
openSNP | rs1057518991 |
23andMe | rs1057518991 |
SNPshot | rs1057518991 |
SNPdbe | rs1057518991 |
MSV3d | rs1057518991 |
GWAS Ctlg | rs1057518991 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518991(T;T) |
Alt | rs1057518991(T;T) |
Reference | Rs1057518991(C;C) |
Significance | Probable-Pathogenic |
Disease | Autism intellectual deficiency |
Variation | info |
Gene | ADNP |
CLNDBN | Autism, severe intellectual deficiency |
Reversed | 1 |
HGVS | NC_000020.10:g.49510578G>A |
CLNSRC | |
CLNACC | RCV000414834.1, |