rs77103971
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs77103971(C;T) |
Make rs77103971(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12810323 |
Gene | RNASEH2A |
is a | snp |
is | mentioned by |
dbSNP | rs77103971 |
dbSNP (classic) | rs77103971 |
ClinGen | rs77103971 |
ebi | rs77103971 |
HLI | rs77103971 |
Exac | rs77103971 |
Gnomad | rs77103971 |
Varsome | rs77103971 |
LitVar | rs77103971 |
Map | rs77103971 |
PheGenI | rs77103971 |
Biobank | rs77103971 |
1000 genomes | rs77103971 |
hgdp | rs77103971 |
ensembl | rs77103971 |
geneview | rs77103971 |
scholar | rs77103971 |
rs77103971 | |
pharmgkb | rs77103971 |
gwascentral | rs77103971 |
openSNP | rs77103971 |
23andMe | rs77103971 |
SNPshot | rs77103971 |
SNPdbe | rs77103971 |
MSV3d | rs77103971 |
GWAS Ctlg | rs77103971 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77103971(T;T) |
Alt | rs77103971(T;T) |
Reference | Rs77103971(C;C) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 4 |
Variation | info |
Gene | RNASEH2A |
CLNDBN | Aicardi Goutieres syndrome 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.12921137C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056305.5, |