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rs748164236

From SNPedia

Merged intors397515378
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs748164236(-;-)
Make rs748164236(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position63065969
GeneTTPA
is asnp
is mentioned by
dbSNPrs748164236
dbSNP (classic)rs748164236
ClinGenrs748164236
ebirs748164236
HLIrs748164236
Exacrs748164236
Gnomadrs748164236
Varsomers748164236
LitVarrs748164236
Maprs748164236
PheGenIrs748164236
Biobankrs748164236
1000 genomesrs748164236
hgdprs748164236
ensemblrs748164236
geneviewrs748164236
scholarrs748164236
googlers748164236
pharmgkbrs748164236
gwascentralrs748164236
openSNPrs748164236
23andMers748164236
SNPshotrs748164236
SNPdbers748164236
MSV3drs748164236
GWAS Ctlgrs748164236
StatusMerged into rs397515378
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs748164236(A;A)
Significance Other
Disease Ataxia Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia, Friedreich-like, with isolated vitamin E deficiency Ataxia with vitamin E deficiency
Reversed 0
HGVS NC_000008.10:g.63978528delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009709.2, RCV000169325.1,