Variant (rsID / SNP)

rs61731956

rs61731956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR1H3, MADD. Location: chromosome 11, position 47,290,147. Clinical significance in the table: Pathogenic.

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Reference-table entries

NR1H3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:47290147
Cytoband: 11p11.2
HGVS: NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln)
Allele change: Missense_R421Q

Associated conditions / phenotypes

Multiple sclerosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.