rs886037611

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/149

Chromosome

9

Position

69035939

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs886037611
dbSNP (classic)	rs886037611
ClinGen	rs886037611
ebi	rs886037611
HLI	rs886037611
Exac	rs886037611
Gnomad	rs886037611
Varsome	rs886037611
LitVar	rs886037611
Map	rs886037611
PheGenI	rs886037611
Biobank	rs886037611
1000 genomes	rs886037611
hgdp	rs886037611
ensembl	rs886037611
geneview	rs886037611
scholar	rs886037611
google	rs886037611
pharmgkb	rs886037611
gwascentral	rs886037611
openSNP	rs886037611
23andMe	rs886037611
SNPshot	rs886037611
SNPdbe	rs886037611
MSV3d	rs886037611
GWAS Ctlg	rs886037611

Max Magnitude

6

aka c.157delC (p.Arg53Alafs)

ClinVar
Risk	Rs886037611(-;-)
Alt	Rs886037611(-;-)
Reference	Rs886037611(C;C)
Significance	Pathogenic
Disease	Friedreich's ataxia
Variation	info
Gene	FXN
CLNDBN	Friedreich's ataxia
Reversed	0
HGVS	NC_000009.11:g.71650855delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004192.4,