rs77834781
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs77834781(C;T) |
Make rs77834781(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 65720101 |
Gene | KAT5, RNASEH2C |
is a | snp |
is | mentioned by |
dbSNP | rs77834781 |
dbSNP (classic) | rs77834781 |
ClinGen | rs77834781 |
ebi | rs77834781 |
HLI | rs77834781 |
Exac | rs77834781 |
Gnomad | rs77834781 |
Varsome | rs77834781 |
LitVar | rs77834781 |
Map | rs77834781 |
PheGenI | rs77834781 |
Biobank | rs77834781 |
1000 genomes | rs77834781 |
hgdp | rs77834781 |
ensembl | rs77834781 |
geneview | rs77834781 |
scholar | rs77834781 |
rs77834781 | |
pharmgkb | rs77834781 |
gwascentral | rs77834781 |
openSNP | rs77834781 |
23andMe | rs77834781 |
SNPshot | rs77834781 |
SNPdbe | rs77834781 |
MSV3d | rs77834781 |
GWAS Ctlg | rs77834781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77834781(T;T) |
Alt | rs77834781(T;T) |
Reference | Rs77834781(C;C) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 3 |
Variation | info |
Gene | RNASEH2C KAT5 |
CLNDBN | Aicardi Goutieres syndrome 3 |
Reversed | 1 |
HGVS | NC_000011.9:g.65487572G>A |
CLNSRC | |
CLNACC |