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rs786204758

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204758(C;C)
Make rs786204758(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position63086020
GeneTTPA
is asnp
is mentioned by
dbSNPrs786204758
ebirs786204758
HLIrs786204758
Exacrs786204758
Varsomers786204758
Maprs786204758
PheGenIrs786204758
hapmaprs786204758
1000 genomesrs786204758
hgdprs786204758
ensemblrs786204758
gopubmedrs786204758
geneviewrs786204758
scholarrs786204758
googlers786204758
pharmgkbrs786204758
gwascentralrs786204758
openSNPrs786204758
23andMers786204758
23andMe allrs786204758
SNP Nexus

SNPshotrs786204758
SNPdbers786204758
MSV3drs786204758
GWAS Ctlgrs786204758
Max Magnitude0
ClinVar
Risk rs786204758(C;C)
Alt rs786204758(C;C)
Reference Rs786204758(T;T)
Significance Probable-Pathogenic
Disease Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia with vitamin E deficiency
Reversed 1
HGVS NC_000008.10:g.63998579A>G
CLNSRC
CLNACC RCV000169618.1,