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rs45517159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.3 Tuberous Sclerosis Complex
Make rs45517159(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2062006
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517159
dbSNP (classic)rs45517159
ClinGenrs45517159
ebirs45517159
HLIrs45517159
Exacrs45517159
Gnomadrs45517159
Varsomers45517159
LitVarrs45517159
Maprs45517159
PheGenIrs45517159
Biobankrs45517159
1000 genomesrs45517159
hgdprs45517159
ensemblrs45517159
geneviewrs45517159
scholarrs45517159
googlers45517159
pharmgkbrs45517159
gwascentralrs45517159
openSNPrs45517159
23andMers45517159
SNPshotrs45517159
SNPdbers45517159
MSV3drs45517159
GWAS Ctlgrs45517159
Max Magnitude6.3
ClinVar
Risk rs45517159(T;T)
Alt rs45517159(T;T)
Reference Rs45517159(C;C)
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.2112007C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043444.2, RCV000201101.1,