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rs113993970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993970(C;T)
Make rs113993970(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position122506817
GeneHTRA1
is asnp
is mentioned by
dbSNPrs113993970
ebirs113993970
HLIrs113993970
Exacrs113993970
Varsomers113993970
Maprs113993970
PheGenIrs113993970
hapmaprs113993970
1000 genomesrs113993970
hgdprs113993970
ensemblrs113993970
gopubmedrs113993970
geneviewrs113993970
scholarrs113993970
googlers113993970
pharmgkbrs113993970
gwascentralrs113993970
openSNPrs113993970
23andMers113993970
23andMe allrs113993970
SNP Nexus

SNPshotrs113993970
SNPdbers113993970
MSV3drs113993970
GWAS Ctlgrs113993970
Max Magnitude0
OMIM602194
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113993970(T;T)
Alt rs113993970(T;T)
Reference rs113993970(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.124266333C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007917.5,