rs140987490

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69064936

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs140987490
dbSNP (classic)	rs140987490
ClinGen	rs140987490
ebi	rs140987490
HLI	rs140987490
Exac	rs140987490
Gnomad	rs140987490
Varsome	rs140987490
LitVar	rs140987490
Map	rs140987490
PheGenI	rs140987490
Biobank	rs140987490
1000 genomes	rs140987490
hgdp	rs140987490
ensembl	rs140987490
geneview	rs140987490
scholar	rs140987490
google	rs140987490
pharmgkb	rs140987490
gwascentral	rs140987490
openSNP	rs140987490
23andMe	rs140987490
SNPshot	rs140987490
SNPdbe	rs140987490
MSV3d	rs140987490
GWAS Ctlg	rs140987490

Max Magnitude

6

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.

OMIM	606829
Desc
Variant	0003
Related	also

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	RCV000004187.3,

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