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rs6812193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.1 slightly higher risk of developing Parkinson's Disease for caucasians
(C;T) 1 normal risk of developing Parkinson's Disease
(T;T) 1.5 Slightly decreased risk of developing Parkinson's Disease
ReferenceGRCh38 38.1/141
Chromosome4
Position76277833
GeneFAM47E, FAM47E-STBD1
is asnp
is mentioned by
dbSNPrs6812193
ebirs6812193
HLIrs6812193
Exacrs6812193
Varsomers6812193
Maprs6812193
PheGenIrs6812193
hapmaprs6812193
1000 genomesrs6812193
hgdprs6812193
ensemblrs6812193
gopubmedrs6812193
geneviewrs6812193
scholarrs6812193
googlers6812193
pharmgkbrs6812193
gwascentralrs6812193
openSNPrs6812193
23andMers6812193
23andMe allrs6812193
SNP Nexus

SNPshotrs6812193
SNPdbers6812193
MSV3drs6812193
GWAS Ctlgrs6812193
GMAF0.3007
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28

People with two copies of the T allele at rs6812193 appear to have a slightly lower risk of Parkinson's disease. [PMID 21738487OA-icon.png]

The same researchers identified another risk allele for Parkinson's disease at rs11868035. plos

GWAS snp
PMID [PMID 19915575OA-icon.png]
Trait Parkinson's disease
Title Genome-wide association study reveals genetic risk underlying Parkinson's disease
Risk Allele T
P-val 4E-7
Odds Ratio 1.12 [NR]


[PMID 22531747] Association study between two novel single nucleotide polymorphisms and sporadic Parkinson's disease in Chinese Han population


[PMID 22465138] Association study of SCARB2 rs6812193 polymorphism with Parkinson's disease in Han Chinese.


GET Evidence
rs6812193
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.382812
summary



[PMID 23419877OA-icon.png] Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data


[PMID 23473716] Association study of rs6812193 polymorphism with Parkinson's disease in a Greek population


[PMID 23408458] The role of SCARB2 as susceptibility factor in Parkinson's disease


[PMID 25929833] Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder