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rs45451497

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45451497(C;T)
Make rs45451497(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2080179
GeneTSC2
is asnp
is mentioned by
dbSNPrs45451497
ebirs45451497
HLIrs45451497
Exacrs45451497
Varsomers45451497
Maprs45451497
PheGenIrs45451497
hapmaprs45451497
1000 genomesrs45451497
hgdprs45451497
ensemblrs45451497
gopubmedrs45451497
geneviewrs45451497
scholarrs45451497
googlers45451497
pharmgkbrs45451497
gwascentralrs45451497
openSNPrs45451497
23andMers45451497
23andMe allrs45451497
SNP Nexus

SNPshotrs45451497
SNPdbers45451497
MSV3drs45451497
GWAS Ctlgrs45451497
Max Magnitude0
ClinVar
Risk rs45451497(T;T)
Alt rs45451497(T;T)
Reference rs45451497(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2130180C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042516.2, RCV000190075.1, RCV000201090.1,