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rs45517169

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45517169(C;T)
Make rs45517169(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2062982
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517169
ebirs45517169
HLIrs45517169
Exacrs45517169
Varsomers45517169
Maprs45517169
PheGenIrs45517169
hapmaprs45517169
1000 genomesrs45517169
hgdprs45517169
ensemblrs45517169
gopubmedrs45517169
geneviewrs45517169
scholarrs45517169
googlers45517169
pharmgkbrs45517169
gwascentralrs45517169
openSNPrs45517169
23andMers45517169
23andMe allrs45517169
SNP Nexus

SNPshotrs45517169
SNPdbers45517169
MSV3drs45517169
GWAS Ctlgrs45517169
Max Magnitude0
ClinVar
Risk rs45517169(T;T)
Alt rs45517169(T;T)
Reference rs45517169(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.2112983C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042408.2, RCV000201131.1,