Have questions? Visit https://www.reddit.com/r/SNPedia

rs148443992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 6 Friedreich's ataxia
(G;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69072686
GeneFXN
is asnp
is mentioned by
dbSNPrs148443992
ebirs148443992
HLIrs148443992
Exacrs148443992
Varsomers148443992
Maprs148443992
PheGenIrs148443992
hapmaprs148443992
1000 genomesrs148443992
hgdprs148443992
ensemblrs148443992
gopubmedrs148443992
geneviewrs148443992
scholarrs148443992
googlers148443992
pharmgkbrs148443992
gwascentralrs148443992
openSNPrs148443992
23andMers148443992
23andMe allrs148443992
SNP Nexus

SNPshotrs148443992
SNPdbers148443992
MSV3drs148443992
GWAS Ctlgrs148443992
Max Magnitude6
rs148443992, also known as c.557 T>G or p.L186R (isof. 1) p.W189G (isof. 2), 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.

ClinVar
Risk rs148443992(G;G)
Alt rs148443992(G;G)
Reference rs148443992(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71687602T>G
CLNSRC
CLNACC


[PMID 15340363] Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.