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rs864321694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs864321694(-;-)
Make rs864321694(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position70762984
GeneAUTS2
is asnp
is mentioned by
dbSNPrs864321694
dbSNP (classic)rs864321694
ClinGenrs864321694
ebirs864321694
HLIrs864321694
Exacrs864321694
Gnomadrs864321694
Varsomers864321694
LitVarrs864321694
Maprs864321694
PheGenIrs864321694
Biobankrs864321694
1000 genomesrs864321694
hgdprs864321694
ensemblrs864321694
geneviewrs864321694
scholarrs864321694
googlers864321694
pharmgkbrs864321694
gwascentralrs864321694
openSNPrs864321694
23andMers864321694
SNPshotrs864321694
SNPdbers864321694
MSV3drs864321694
GWAS Ctlgrs864321694
Max Magnitude0
ClinVar
Risk rs864321694(-;-)
Alt rs864321694(-;-)
Reference Rs864321694(AA;AA)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene AUTS2
CLNDBN Mental retardation, autosomal dominant 26
Reversed 0
HGVS NC_000007.13:g.70227970_70227971delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000203570.1,