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rs397515009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397515009(-;AGCAAGTCCAGCTCCTC)
Make rs397515009(AGCAAGTCCAGCTCCTC;AGCAAGTCCAGCTCCTC)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2084385
GeneTSC2
is asnp
is mentioned by
dbSNPrs397515009
dbSNP (old)rs397515009
ClinGenrs397515009
ebirs397515009
HLIrs397515009
Exacrs397515009
Gnomadrs397515009
Varsomers397515009
Maprs397515009
PheGenIrs397515009
Biobankrs397515009
1000 genomesrs397515009
hgdprs397515009
ensemblrs397515009
gopubmedrs397515009
geneviewrs397515009
scholarrs397515009
googlers397515009
pharmgkbrs397515009
gwascentralrs397515009
openSNPrs397515009
23andMers397515009
23andMe allrs397515009
SNP Nexus

SNPshotrs397515009
SNPdbers397515009
MSV3drs397515009
GWAS Ctlgrs397515009
Max Magnitude0
ClinVar
Risk rs397515009(AGCAAGTCCAGCTCCTC;AGCAAGTCCAGCTCCTC)
Alt rs397515009(AGCAAGTCCAGCTCCTC;AGCAAGTCCAGCTCCTC)
Reference Rs397515009(-;-)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2134370_2134386dup17
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000055224.1, RCV000201100.1,