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rs72470545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72470545(A;A)
Make rs72470545(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position74532698
GeneHTRA2, LOXL3
is asnp
is mentioned by
dbSNPrs72470545
ebirs72470545
HLIrs72470545
Exacrs72470545
Varsomers72470545
Maprs72470545
PheGenIrs72470545
hapmaprs72470545
1000 genomesrs72470545
hgdprs72470545
ensemblrs72470545
gopubmedrs72470545
geneviewrs72470545
scholarrs72470545
googlers72470545
pharmgkbrs72470545
gwascentralrs72470545
openSNPrs72470545
23andMers72470545
23andMe allrs72470545
SNP Nexus

SNPshotrs72470545
SNPdbers72470545
MSV3drs72470545
GWAS Ctlgrs72470545
GMAF0.002296
Max Magnitude0
OMIM606441
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72470545(A;A)
Alt rs72470545(A;A)
Reference rs72470545(G;G)
Significance Other
Disease Parkinson disease 13
Variation info
Gene LOXL3 HTRA2
CLNDBN Parkinson disease 13
Reversed 0
HGVS NC_000002.11:g.74759825G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004589.4,



[PMID 18790661OA-icon.png] Genetic variation of Omi/HtrA2 and Parkinson's disease.


GET Evidence
HTRA2-G399S
aa_change Gly399Ser
aa_change_short G399S
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.00362521
summary 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.