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rs45517327

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517327(G;T)
Make rs45517327(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2084318
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517327
ebirs45517327
HLIrs45517327
Exacrs45517327
Varsomers45517327
Maprs45517327
PheGenIrs45517327
hapmaprs45517327
1000 genomesrs45517327
hgdprs45517327
ensemblrs45517327
gopubmedrs45517327
geneviewrs45517327
scholarrs45517327
googlers45517327
pharmgkbrs45517327
gwascentralrs45517327
openSNPrs45517327
23andMers45517327
23andMe allrs45517327
SNP Nexus

SNPshotrs45517327
SNPdbers45517327
MSV3drs45517327
GWAS Ctlgrs45517327
Max Magnitude0
ClinVar
Risk rs45517327(T;T)
Alt rs45517327(T;T)
Reference rs45517327(G;G)
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.2134319G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042815.2, RCV000201169.1,