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rs797045020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045020(C;C)
Make rs797045020(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position123625935
GeneTHOC2
is asnp
is mentioned by
dbSNPrs797045020
dbSNP (classic)rs797045020
ClinGenrs797045020
ebirs797045020
HLIrs797045020
Exacrs797045020
Gnomadrs797045020
Varsomers797045020
LitVarrs797045020
Maprs797045020
PheGenIrs797045020
Biobankrs797045020
1000 genomesrs797045020
hgdprs797045020
ensemblrs797045020
geneviewrs797045020
scholarrs797045020
googlers797045020
pharmgkbrs797045020
gwascentralrs797045020
openSNPrs797045020
23andMers797045020
SNPshotrs797045020
SNPdbers797045020
MSV3drs797045020
GWAS Ctlgrs797045020
Max Magnitude0
ClinVar
Risk rs797045020(C;C)
Alt rs797045020(C;C)
Reference Rs797045020(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene THOC2
CLNDBN Mental retardation, X-linked 12
Reversed 1
HGVS NC_000023.10:g.122759786A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000190532.2,