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rs56214919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(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
Position69072646
GeneFXN
is asnp
is mentioned by
dbSNPrs56214919
ebirs56214919
HLIrs56214919
Exacrs56214919
Varsomers56214919
Maprs56214919
PheGenIrs56214919
hapmaprs56214919
1000 genomesrs56214919
hgdprs56214919
ensemblrs56214919
gopubmedrs56214919
geneviewrs56214919
scholarrs56214919
googlers56214919
pharmgkbrs56214919
gwascentralrs56214919
openSNPrs56214919
23andMers56214919
23andMe allrs56214919
SNP Nexus

SNPshotrs56214919
SNPdbers56214919
MSV3drs56214919
GWAS Ctlgrs56214919
Max Magnitude6
rs56214919, also known as c.517 T>G or p.W173G, 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
Variant0007
Relatedalso


ClinVar
Risk rs56214919(G;G)
Alt rs56214919(G;G)
Reference rs56214919(T;T)
Significance Probable-Pathogenic
Disease Friedreich's ataxia
Variation info
Gene FXN
CLNDBN Friedreich's ataxia
Reversed 0
HGVS NC_000009.11:g.71687562T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004191.1,



[PMID 9989622] Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.


[PMID 17703324] Frataxin gene point mutations in Italian Friedreich ataxia patients.