rs113993968
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113993968(A;A) |
Make rs113993968(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 122489603 |
Gene | HTRA1, LOC105378526 |
is a | snp |
is | mentioned by |
dbSNP | rs113993968 |
dbSNP (classic) | rs113993968 |
ClinGen | rs113993968 |
ebi | rs113993968 |
HLI | rs113993968 |
Exac | rs113993968 |
Gnomad | rs113993968 |
Varsome | rs113993968 |
LitVar | rs113993968 |
Map | rs113993968 |
PheGenI | rs113993968 |
Biobank | rs113993968 |
1000 genomes | rs113993968 |
hgdp | rs113993968 |
ensembl | rs113993968 |
geneview | rs113993968 |
scholar | rs113993968 |
rs113993968 | |
pharmgkb | rs113993968 |
gwascentral | rs113993968 |
openSNP | rs113993968 |
23andMe | rs113993968 |
SNPshot | rs113993968 |
SNPdbe | rs113993968 |
MSV3d | rs113993968 |
GWAS Ctlg | rs113993968 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113993968(A;A) |
Alt | rs113993968(A;A) |
Reference | Rs113993968(G;G) |
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.124249119G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000007919.7, |
[PMID 19387015] Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.