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rs1801334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801334(A;A)
Make rs1801334(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position161360193
GenePARK2
is asnp
is mentioned by
dbSNPrs1801334
ebirs1801334
HLIrs1801334
Exacrs1801334
Varsomers1801334
Maprs1801334
PheGenIrs1801334
hapmaprs1801334
1000 genomesrs1801334
hgdprs1801334
ensemblrs1801334
gopubmedrs1801334
geneviewrs1801334
scholarrs1801334
googlers1801334
pharmgkbrs1801334
gwascentralrs1801334
openSNPrs1801334
23andMers1801334
23andMe allrs1801334
SNP Nexus

SNPshotrs1801334
SNPdbers1801334
MSV3drs1801334
GWAS Ctlgrs1801334
GMAF0.02066
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene PARK2
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103705057970
Disease Association Defects in PARK2 may be involved in the development and/or progression of ovarian cancer.



[PMID 12975291] Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.


[PMID 16269266] Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease.


ClinVar
Risk rs1801334(A;A)
Alt rs1801334(A;A)
Reference rs1801334(G;G)
Significance Non-pathogenic
Disease Parkinson disease 2
Variation info
Gene PARK2
CLNDBN Parkinson disease 2
Reversed 1
HGVS NC_000006.11:g.161781225C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034121.2,



GET Evidence
PARK2-D394N
aa_change Asp394Asn
aa_change_short D394N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0318832
summary