rs1057524874
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
(-;GA) | 6.3 | Macrocephaly/autism syndrome |
Make rs1057524874(GA;GA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 87864514 |
Gene | KLLN, PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs1057524874 |
dbSNP (classic) | rs1057524874 |
ClinGen | rs1057524874 |
ebi | rs1057524874 |
HLI | rs1057524874 |
Exac | rs1057524874 |
Gnomad | rs1057524874 |
Varsome | rs1057524874 |
LitVar | rs1057524874 |
Map | rs1057524874 |
PheGenI | rs1057524874 |
Biobank | rs1057524874 |
1000 genomes | rs1057524874 |
hgdp | rs1057524874 |
ensembl | rs1057524874 |
geneview | rs1057524874 |
scholar | rs1057524874 |
rs1057524874 | |
pharmgkb | rs1057524874 |
gwascentral | rs1057524874 |
openSNP | rs1057524874 |
23andMe | rs1057524874 |
SNPshot | rs1057524874 |
SNPdbe | rs1057524874 |
MSV3d | rs1057524874 |
GWAS Ctlg | rs1057524874 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs1057524874(GA;GA) |
Alt | rs1057524874(GA;GA) |
Reference | Rs1057524874(-;-) |
Significance | Pathogenic |
Disease | Macrocephaly/autism syndrome |
Variation | info |
Gene | PTEN KLLN |
CLNDBN | Macrocephaly/autism syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89624270_89624271dupGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000445351.1, |