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rs886037630

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position69053247
GeneFXN
is asnp
is mentioned by
dbSNPrs886037630
dbSNP (classic)rs886037630
ClinGenrs886037630
ebirs886037630
HLIrs886037630
Exacrs886037630
Gnomadrs886037630
Varsomers886037630
LitVarrs886037630
Maprs886037630
PheGenIrs886037630
Biobankrs886037630
1000 genomesrs886037630
hgdprs886037630
ensemblrs886037630
geneviewrs886037630
scholarrs886037630
googlers886037630
pharmgkbrs886037630
gwascentralrs886037630
openSNPrs886037630
23andMers886037630
23andMe allrs886037630
SNPshotrs886037630
SNPdbers886037630
MSV3drs886037630
GWAS Ctlgrs886037630
Max Magnitude6
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,