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rs113993969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993969(A;A)
Make rs113993969(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position122506802
GeneHTRA1
is asnp
is mentioned by
dbSNPrs113993969
ebirs113993969
HLIrs113993969
Exacrs113993969
Varsomers113993969
Maprs113993969
PheGenIrs113993969
hapmaprs113993969
1000 genomesrs113993969
hgdprs113993969
ensemblrs113993969
gopubmedrs113993969
geneviewrs113993969
scholarrs113993969
googlers113993969
pharmgkbrs113993969
gwascentralrs113993969
openSNPrs113993969
23andMers113993969
23andMe allrs113993969
SNP Nexus

SNPshotrs113993969
SNPdbers113993969
MSV3drs113993969
GWAS Ctlgrs113993969
Max Magnitude0
OMIM602194
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113993969(A;A)
Alt rs113993969(A;A)
Reference rs113993969(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.124266318G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007918.5,


[PMID 19387015] Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.