{{Rsnum
|rsid=72470545
|Gene=HTRA2
|Chromosome=2
|position=74532698
|Orientation=plus
|GMAF=0.002296
|Gene_s=HTRA2,LOXL3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=606441
|rsnum=72470545
|variant=0001
}}

{{ClinVar
|rsid=72470545
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=74759825
|CHROM=2
|GMAF=0.0023
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050268000000040416110100
|GENEINFO=HTRA2:27429
|GENE_NAME=HTRA2
|GENE_ID=27429
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.74759825G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;S3D;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9977; 0.002296
|CLNACC=RCV000004589.1
|CLNDBN=Parkinson disease 13, autosomal dominant
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606441.0001
|COMMON=1
|Disease=Parkinson disease 13
}}

{{PMID Auto
|PMID=18790661
|Title=Genetic variation of Omi/HtrA2 and Parkinson's disease.
|OA=1
}}

{{GET Evidence
|gene=HTRA2
|aa_change=Gly399Ser
|aa_change_short=G399S
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs72470545
|overall_frequency_n=39
|overall_frequency_d=10758
|overall_frequency=0.00362521
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=0
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.44
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|max_or_disease_name=Parkinson Disease
|max_or_case_pos=9
|max_or_case_neg=1153
|max_or_control_pos=6
|max_or_control_neg=1192
|max_or_or=1.551
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=Although one group reported this variant as being associated with Parkinson’s disease, their screen lacked statistical significance and later studies have found equal frequencies of this variant in unaffected controls. Knockout of this gene is reported to cause parkinsonianism in mice, but another functional study found no impact on the mitochondrial pathway they implicate as being causal in Parkinson’s.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}