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rs863225264

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225264(A;A)
Make rs863225264(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11130747
GeneMTOR
is asnp
is mentioned by
dbSNPrs863225264
ebirs863225264
HLIrs863225264
Exacrs863225264
Varsomers863225264
Maprs863225264
PheGenIrs863225264
hapmaprs863225264
1000 genomesrs863225264
hgdprs863225264
ensemblrs863225264
gopubmedrs863225264
geneviewrs863225264
scholarrs863225264
googlers863225264
pharmgkbrs863225264
gwascentralrs863225264
openSNPrs863225264
23andMers863225264
23andMe allrs863225264
SNP Nexus

SNPshotrs863225264
SNPdbers863225264
MSV3drs863225264
GWAS Ctlgrs863225264
Max Magnitude0
ClinVar
Risk rs863225264(A;A)
Alt rs863225264(A;A)
Reference rs863225264(G;G)
Significance Pathogenic
Disease Smith-Kingsmore syndrome
Variation info
Gene MTOR
CLNDBN Smith-Kingsmore syndrome
Reversed 1
HGVS NC_000001.10:g.11190804C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201885.1,