rs113993971
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113993971(C;T) |
Make rs113993971(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 122508758 |
Gene | HTRA1 |
is a | snp |
is | mentioned by |
dbSNP | rs113993971 |
dbSNP (classic) | rs113993971 |
ClinGen | rs113993971 |
ebi | rs113993971 |
HLI | rs113993971 |
Exac | rs113993971 |
Gnomad | rs113993971 |
Varsome | rs113993971 |
LitVar | rs113993971 |
Map | rs113993971 |
PheGenI | rs113993971 |
Biobank | rs113993971 |
1000 genomes | rs113993971 |
hgdp | rs113993971 |
ensembl | rs113993971 |
geneview | rs113993971 |
scholar | rs113993971 |
rs113993971 | |
pharmgkb | rs113993971 |
gwascentral | rs113993971 |
openSNP | rs113993971 |
23andMe | rs113993971 |
SNPshot | rs113993971 |
SNPdbe | rs113993971 |
MSV3d | rs113993971 |
GWAS Ctlg | rs113993971 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113993971(T;T) |
Alt | rs113993971(T;T) |
Reference | Rs113993971(C;C) |
Significance | Pathogenic |
Disease | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
Variation | info |
Gene | HTRA1 |
CLNDBN | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
Reversed | 0 |
HGVS | NC_000010.10:g.124268274C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007916.5, |