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rs758349851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs758349851(C;C)
Make rs758349851(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position63073090
GeneTTPA
is asnp
is mentioned by
dbSNPrs758349851
dbSNP (classic)rs758349851
ClinGenrs758349851
ebirs758349851
HLIrs758349851
Exacrs758349851
Gnomadrs758349851
Varsomers758349851
LitVarrs758349851
Maprs758349851
PheGenIrs758349851
Biobankrs758349851
1000 genomesrs758349851
hgdprs758349851
ensemblrs758349851
geneviewrs758349851
scholarrs758349851
googlers758349851
pharmgkbrs758349851
gwascentralrs758349851
openSNPrs758349851
23andMers758349851
SNPshotrs758349851
SNPdbers758349851
MSV3drs758349851
GWAS Ctlgrs758349851
Max Magnitude0
ClinVar
Risk rs758349851(C;C)
Alt rs758349851(C;C)
Reference Rs758349851(T;T)
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.63985649T>C
CLNSRC
CLNACC RCV000412004.1,