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rs45517182

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517182(A;A)
Make rs45517182(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2064428
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517182
ebirs45517182
HLIrs45517182
Exacrs45517182
Varsomers45517182
Maprs45517182
PheGenIrs45517182
hapmaprs45517182
1000 genomesrs45517182
hgdprs45517182
ensemblrs45517182
gopubmedrs45517182
geneviewrs45517182
scholarrs45517182
googlers45517182
pharmgkbrs45517182
gwascentralrs45517182
openSNPrs45517182
23andMers45517182
23andMe allrs45517182
SNP Nexus

SNPshotrs45517182
SNPdbers45517182
MSV3drs45517182
GWAS Ctlgrs45517182
Max Magnitude0
ClinVar
Risk rs45517182(A,T;A,T)
Alt rs45517182(A,T;A,T)
Reference rs45517182(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.2114429G>A; NC_000016.9:g.2114429G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042908.2, RCV000201163.1, RCV000055409.1,