rs147643987

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs147643987(A;C)

Make rs147643987(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

69035783

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs147643987
dbSNP (classic)	rs147643987
ClinGen	rs147643987
ebi	rs147643987
HLI	rs147643987
Exac	rs147643987
Gnomad	rs147643987
Varsome	rs147643987
LitVar	rs147643987
Map	rs147643987
PheGenI	rs147643987
Biobank	rs147643987
1000 genomes	rs147643987
hgdp	rs147643987
ensembl	rs147643987
geneview	rs147643987
scholar	rs147643987
google	rs147643987
pharmgkb	rs147643987
gwascentral	rs147643987
openSNP	rs147643987
23andMe	rs147643987
SNPshot	rs147643987
SNPdbe	rs147643987
MSV3d	rs147643987
GWAS Ctlg	rs147643987

Max Magnitude

0

ClinVar
Risk	rs147643987(C;C)
Alt	rs147643987(C;C)
Reference	Rs147643987(A;A)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71650699A>C
CLNSRC
CLNACC

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