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rs61731956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1
(A;G) 1
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47268596
GeneMADD, NR1H3
is asnp
is mentioned by
dbSNPrs61731956
ebirs61731956
HLIrs61731956
Exacrs61731956
Varsomers61731956
Maprs61731956
PheGenIrs61731956
hapmaprs61731956
1000 genomesrs61731956
hgdprs61731956
ensemblrs61731956
gopubmedrs61731956
geneviewrs61731956
scholarrs61731956
googlers61731956
pharmgkbrs61731956
gwascentralrs61731956
openSNPrs61731956
23andMers61731956
23andMe allrs61731956
SNP Nexus

SNPshotrs61731956
SNPdbers61731956
MSV3drs61731956
GWAS Ctlgrs61731956
Max Magnitude1

rs61731956, also known as c.1244G>A, p.Arg415Gln or R415Q, represents a rare mutation in the NR1H3 gene on chromosome 11. This mutation is a missense mutation causing the loss of function of its gene product, the LXRA protein.

Based on a study of seven multiple sclerosis patients from two families presenting with severe, progessive disease (and an average onset of 34 years), the rs61731956(A) allele was estimated to be causative for multiple sclerosis, with individuals carrying this mutation having a 70% chance of developing the disease. The authors note that "the presence of seemingly unaffected obligate carriers and one male sibling at age 55 indicates that the penetrance of the mutation is incomplete, and additional genetic or environmental factors may be required for the onset of MS".[PMID 27253448OA-icon.png]

However comments in pubmed on the original article and then a replication analysis in a much larger sample collection 10.1101/061366 strongly suggest this is not real. http://biorxiv.org/content/early/2016/06/29/061366

ClinVar
Risk rs61731956(A;A)
Alt rs61731956(A;A)
Reference rs61731956(G;G)
Significance Pathogenic
Disease Multiple sclerosis
Variation info
Gene NR1H3 MADD
CLNDBN Multiple sclerosis
Reversed 0
HGVS NC_000011.9:g.47290147G>A
CLNSRC University of British Columbia
CLNACC RCV000211445.1,