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rs1057516029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516029(G;T)
Make rs1057516029(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position14290809
GeneTRIO
is asnp
is mentioned by
dbSNPrs1057516029
dbSNP (old)rs1057516029
ClinGenrs1057516029
ebirs1057516029
HLIrs1057516029
Exacrs1057516029
Gnomadrs1057516029
Varsomers1057516029
Maprs1057516029
PheGenIrs1057516029
Biobankrs1057516029
1000 genomesrs1057516029
hgdprs1057516029
ensemblrs1057516029
gopubmedrs1057516029
geneviewrs1057516029
scholarrs1057516029
googlers1057516029
pharmgkbrs1057516029
gwascentralrs1057516029
openSNPrs1057516029
23andMers1057516029
23andMe allrs1057516029
SNPshotrs1057516029
SNPdbers1057516029
MSV3drs1057516029
GWAS Ctlgrs1057516029
Max Magnitude0
ClinVar
Risk rs1057516029(T;T)
Alt rs1057516029(T;T)
Reference Rs1057516029(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TRIO
CLNDBN Mental retardation, autosomal dominant 44
Reversed 0
HGVS NC_000005.9:g.14290918G>T
CLNSRC
CLNACC RCV000408638.1,