rs121908445
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs121908445(C;C) |
Make rs121908445(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 148147542 |
Gene | CNTNAP2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908445 |
dbSNP (classic) | rs121908445 |
ClinGen | rs121908445 |
ebi | rs121908445 |
HLI | rs121908445 |
Exac | rs121908445 |
Gnomad | rs121908445 |
Varsome | rs121908445 |
LitVar | rs121908445 |
Map | rs121908445 |
PheGenI | rs121908445 |
Biobank | rs121908445 |
1000 genomes | rs121908445 |
hgdp | rs121908445 |
ensembl | rs121908445 |
geneview | rs121908445 |
scholar | rs121908445 |
rs121908445 | |
pharmgkb | rs121908445 |
gwascentral | rs121908445 |
openSNP | rs121908445 |
23andMe | rs121908445 |
SNPshot | rs121908445 |
SNPdbe | rs121908445 |
MSV3d | rs121908445 |
GWAS Ctlg | rs121908445 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908445(C;C) |
Alt | rs121908445(C;C) |
Reference | Rs121908445(T;T) |
Significance | Other |
Disease | Autism 15 not specified Cortical dysplasia-focal epilepsy syndrome |
Variation | info |
Gene | CNTNAP2 |
CLNDBN | Autism 15 not specified Cortical dysplasia-focal epilepsy syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.147844634T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005828.4, RCV000187213.2, RCV000467303.1, |