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rs587776447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776447(C;C)
Make rs587776447(C;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position122508741
GeneHTRA1
is asnp
is mentioned by
dbSNPrs587776447
dbSNP (classic)rs587776447
ClinGenrs587776447
ebirs587776447
HLIrs587776447
Exacrs587776447
Gnomadrs587776447
Varsomers587776447
LitVarrs587776447
Maprs587776447
PheGenIrs587776447
Biobankrs587776447
1000 genomesrs587776447
hgdprs587776447
ensemblrs587776447
geneviewrs587776447
scholarrs587776447
googlers587776447
pharmgkbrs587776447
gwascentralrs587776447
openSNPrs587776447
23andMers587776447
SNPshotrs587776447
SNPdbers587776447
MSV3drs587776447
GWAS Ctlgrs587776447
Max Magnitude0
ClinVar
Risk rs587776447(C;C)
Alt rs587776447(C;C)
Reference Rs587776447(T;T)
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.124268257T>C
CLNSRC ClinVar
CLNACC RCV000144149.1,