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rs1060505030

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060505030(A;A)
Make rs1060505030(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position109075001
GeneTAF13
is asnp
is mentioned by
dbSNPrs1060505030
dbSNP (old)rs1060505030
ClinGenrs1060505030
ebirs1060505030
HLIrs1060505030
Exacrs1060505030
Gnomadrs1060505030
Varsomers1060505030
Maprs1060505030
PheGenIrs1060505030
Biobankrs1060505030
1000 genomesrs1060505030
hgdprs1060505030
ensemblrs1060505030
gopubmedrs1060505030
geneviewrs1060505030
scholarrs1060505030
googlers1060505030
pharmgkbrs1060505030
gwascentralrs1060505030
openSNPrs1060505030
23andMers1060505030
23andMe allrs1060505030
SNPshotrs1060505030
SNPdbers1060505030
MSV3drs1060505030
GWAS Ctlgrs1060505030
Max Magnitude0
ClinVar
Risk rs1060505030(A;A)
Alt rs1060505030(A;A)
Reference Rs1060505030(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TAF13
CLNDBN Mental retardation, autosomal recessive 60
Reversed 1
HGVS NC_000001.10:g.109617623A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477696.1,