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rs113993968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993968(A;A)
Make rs113993968(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position122489603
GeneHTRA1
is asnp
is mentioned by
dbSNPrs113993968
ebirs113993968
HLIrs113993968
Exacrs113993968
Varsomers113993968
Maprs113993968
PheGenIrs113993968
hapmaprs113993968
1000 genomesrs113993968
hgdprs113993968
ensemblrs113993968
gopubmedrs113993968
geneviewrs113993968
scholarrs113993968
googlers113993968
pharmgkbrs113993968
gwascentralrs113993968
openSNPrs113993968
23andMers113993968
23andMe allrs113993968
SNP Nexus

SNPshotrs113993968
SNPdbers113993968
MSV3drs113993968
GWAS Ctlgrs113993968
Max Magnitude0
OMIM602194
Desc
Variant0005
Relatedalso
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 (variants)
CLNACC RCV000007919.5,


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