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rs869312671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312671(A;A)
Make rs869312671(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position11144735
GeneMTOR, MTOR-AS1
is asnp
is mentioned by
dbSNPrs869312671
dbSNP (classic)rs869312671
ClinGenrs869312671
ebirs869312671
HLIrs869312671
Exacrs869312671
Gnomadrs869312671
Varsomers869312671
LitVarrs869312671
Maprs869312671
PheGenIrs869312671
Biobankrs869312671
1000 genomesrs869312671
hgdprs869312671
ensemblrs869312671
geneviewrs869312671
scholarrs869312671
googlers869312671
pharmgkbrs869312671
gwascentralrs869312671
openSNPrs869312671
23andMers869312671
SNPshotrs869312671
SNPdbers869312671
MSV3drs869312671
GWAS Ctlgrs869312671
Max Magnitude0
ClinVar
Risk rs869312671(A;A)
Alt rs869312671(A;A)
Reference Rs869312671(G;G)
Significance Pathogenic
Disease Smith-Kingsmore syndrome
Variation info
Gene MTOR MTOR-AS1
CLNDBN Smith-Kingsmore syndrome
Reversed 1
HGVS NC_000001.10:g.11204792C>T
CLNSRC
CLNACC RCV000209880.1,