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rs727502811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502811(A;A)
Make rs727502811(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position129814108
GeneTOR1A
is asnp
is mentioned by
dbSNPrs727502811
dbSNP (classic)rs727502811
ClinGenrs727502811
ebirs727502811
HLIrs727502811
Exacrs727502811
Gnomadrs727502811
Varsomers727502811
LitVarrs727502811
Maprs727502811
PheGenIrs727502811
Biobankrs727502811
1000 genomesrs727502811
hgdprs727502811
ensemblrs727502811
geneviewrs727502811
scholarrs727502811
googlers727502811
pharmgkbrs727502811
gwascentralrs727502811
openSNPrs727502811
23andMers727502811
SNPshotrs727502811
SNPdbers727502811
MSV3drs727502811
GWAS Ctlgrs727502811
Max Magnitude0
ClinVar
Risk rs727502811(A;A)
Alt rs727502811(A;A)
Reference Rs727502811(G;G)
Significance Other
Disease Dystonia 1
Variation info
Gene TOR1A
CLNDBN Dystonia 1
Reversed 1
HGVS NC_000009.11:g.132576387C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000149874.5,