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rs181109321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs181109321(C;T)
Make rs181109321(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position63065904
GeneTTPA
is asnp
is mentioned by
dbSNPrs181109321
dbSNP (old)rs181109321
ClinGenrs181109321
ebirs181109321
HLIrs181109321
Exacrs181109321
Gnomadrs181109321
Varsomers181109321
LitVarrs181109321
Maprs181109321
PheGenIrs181109321
Biobankrs181109321
1000 genomesrs181109321
hgdprs181109321
ensemblrs181109321
gopubmedrs181109321
geneviewrs181109321
scholarrs181109321
googlers181109321
pharmgkbrs181109321
gwascentralrs181109321
openSNPrs181109321
23andMers181109321
23andMe allrs181109321
SNPshotrs181109321
SNPdbers181109321
MSV3drs181109321
GWAS Ctlgrs181109321
Max Magnitude0
ClinVar
Risk rs181109321(T;T)
Alt rs181109321(T;T)
Reference Rs181109321(C;C)
Significance Probable-Pathogenic
Disease Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia with vitamin E deficiency
Reversed 0
HGVS NC_000008.10:g.63978463C>T
CLNSRC
CLNACC RCV000415204.1,