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rs140987490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69064936
GeneFXN
is asnp
is mentioned by
dbSNPrs140987490
ebirs140987490
HLIrs140987490
Exacrs140987490
Varsomers140987490
Maprs140987490
PheGenIrs140987490
hapmaprs140987490
1000 genomesrs140987490
hgdprs140987490
ensemblrs140987490
gopubmedrs140987490
geneviewrs140987490
scholarrs140987490
googlers140987490
pharmgkbrs140987490
gwascentralrs140987490
openSNPrs140987490
23andMers140987490
23andMe allrs140987490
SNP Nexus

SNPshotrs140987490
SNPdbers140987490
MSV3drs140987490
GWAS Ctlgrs140987490
Max Magnitude6
rs140987490, also known as c.384-2_A>G or , is a mutation in the FXN gene on chromosome 9.

The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

OMIM606829
Desc
Variant0003
Relatedalso
ClinVar
Risk rs140987490(G;G)
Alt rs140987490(G;G)
Reference rs140987490(A;A)
Significance Pathogenic
Disease Friedreich's ataxia
Variation info
Gene FXN
CLNDBN Friedreich's ataxia
Reversed 0
HGVS NC_000009.11:g.71679852A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004187.2,


[PMID 8596916] Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.