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rs113993971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993971(C;T)
Make rs113993971(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position122508758
GeneHTRA1
is asnp
is mentioned by
dbSNPrs113993971
ebirs113993971
HLIrs113993971
Exacrs113993971
Varsomers113993971
Maprs113993971
PheGenIrs113993971
hapmaprs113993971
1000 genomesrs113993971
hgdprs113993971
ensemblrs113993971
gopubmedrs113993971
geneviewrs113993971
scholarrs113993971
googlers113993971
pharmgkbrs113993971
gwascentralrs113993971
openSNPrs113993971
23andMers113993971
23andMe allrs113993971
SNP Nexus

SNPshotrs113993971
SNPdbers113993971
MSV3drs113993971
GWAS Ctlgrs113993971
Max Magnitude0
OMIM602194
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113993971(T;T)
Alt rs113993971(T;T)
Reference rs113993971(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.124268274C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007916.4,