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rs45517337

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45517337(C;T)
Make rs45517337(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2084540
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517337
ebirs45517337
HLIrs45517337
Exacrs45517337
Varsomers45517337
Maprs45517337
PheGenIrs45517337
hapmaprs45517337
1000 genomesrs45517337
hgdprs45517337
ensemblrs45517337
gopubmedrs45517337
geneviewrs45517337
scholarrs45517337
googlers45517337
pharmgkbrs45517337
gwascentralrs45517337
openSNPrs45517337
23andMers45517337
23andMe allrs45517337
SNP Nexus

SNPshotrs45517337
SNPdbers45517337
MSV3drs45517337
GWAS Ctlgrs45517337
Max Magnitude0
ClinVar
Risk rs45517337(T;T)
Alt rs45517337(T;T)
Reference rs45517337(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.2134541C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042784.2, RCV000201035.1,