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rs869312878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869312878(-;C)
Make rs869312878(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position70766131
GeneAUTS2
is asnp
is mentioned by
dbSNPrs869312878
dbSNP (classic)rs869312878
ClinGenrs869312878
ebirs869312878
HLIrs869312878
Exacrs869312878
Gnomadrs869312878
Varsomers869312878
LitVarrs869312878
Maprs869312878
PheGenIrs869312878
Biobankrs869312878
1000 genomesrs869312878
hgdprs869312878
ensemblrs869312878
geneviewrs869312878
scholarrs869312878
googlers869312878
pharmgkbrs869312878
gwascentralrs869312878
openSNPrs869312878
23andMers869312878
SNPshotrs869312878
SNPdbers869312878
MSV3drs869312878
GWAS Ctlgrs869312878
Max Magnitude0
ClinVar
Risk rs869312878(C;C)
Alt rs869312878(C;C)
Reference Rs869312878(-;-)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene AUTS2
CLNDBN Mental retardation, autosomal dominant 26
Reversed 0
HGVS NC_000007.13:g.70231117dupC
CLNSRC
CLNACC RCV000209947.1,