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rs1060505029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060505029(A;A)
Make rs1060505029(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position109066220
GeneTAF13
is asnp
is mentioned by
dbSNPrs1060505029
dbSNP (classic)rs1060505029
ClinGenrs1060505029
ebirs1060505029
HLIrs1060505029
Exacrs1060505029
Gnomadrs1060505029
Varsomers1060505029
LitVarrs1060505029
Maprs1060505029
PheGenIrs1060505029
Biobankrs1060505029
1000 genomesrs1060505029
hgdprs1060505029
ensemblrs1060505029
geneviewrs1060505029
scholarrs1060505029
googlers1060505029
pharmgkbrs1060505029
gwascentralrs1060505029
openSNPrs1060505029
23andMers1060505029
SNPshotrs1060505029
SNPdbers1060505029
MSV3drs1060505029
GWAS Ctlgrs1060505029
Max Magnitude0
ClinVar
Risk rs1060505029(A;A)
Alt rs1060505029(A;A)
Reference Rs1060505029(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TAF13
CLNDBN Mental retardation, autosomal recessive 60
Reversed 1
HGVS NC_000001.10:g.109608842A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477746.1,