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rs886037611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;C) 3 Carrier of a Friedreich's ataxia mutation
(C;C) 0 common in clinvar
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position69035939
GeneFXN
is asnp
is mentioned by
dbSNPrs886037611
dbSNP (classic)rs886037611
ClinGenrs886037611
ebirs886037611
HLIrs886037611
Exacrs886037611
Gnomadrs886037611
Varsomers886037611
LitVarrs886037611
Maprs886037611
PheGenIrs886037611
Biobankrs886037611
1000 genomesrs886037611
hgdprs886037611
ensemblrs886037611
geneviewrs886037611
scholarrs886037611
googlers886037611
pharmgkbrs886037611
gwascentralrs886037611
openSNPrs886037611
23andMers886037611
23andMe allrs886037611
SNPshotrs886037611
SNPdbers886037611
MSV3drs886037611
GWAS Ctlgrs886037611
Max Magnitude6

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,