rs886037630

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ATGTCT;ATGTCT)	0	common in clinvar
(ATGTCT;TACACCTTGAGGACA)	3	Carrier of a Friedreich's ataxia mutation
(TACACCTTGAGGACA;TACACCTTGAGGACA)	6	Friedreich's ataxia

Reference

GRCh38.p7 38.3/149

Chromosome

9

Position

69053247

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs886037630
dbSNP (classic)	rs886037630
ClinGen	rs886037630
ebi	rs886037630
HLI	rs886037630
Exac	rs886037630
Gnomad	rs886037630
Varsome	rs886037630
LitVar	rs886037630
Map	rs886037630
PheGenI	rs886037630
Biobank	rs886037630
1000 genomes	rs886037630
hgdp	rs886037630
ensembl	rs886037630
geneview	rs886037630
scholar	rs886037630
google	rs886037630
pharmgkb	rs886037630
gwascentral	rs886037630
openSNP	rs886037630
23andMe	rs886037630
SNPshot	rs886037630
SNPdbe	rs886037630
MSV3d	rs886037630
GWAS Ctlg	rs886037630

Max Magnitude

6

ClinVar
Risk	Rs886037630(TACACCTTGAGGACA;TACACCTTGAGGACA)
Alt	Rs886037630(TACACCTTGAGGACA;TACACCTTGAGGACA)
Reference	Rs886037630(ATGTCT;ATGTCT)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71668163_71668168delATGTCTinsTACACCTTGAGGACA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029175.3,