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rs45517340

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45517340(C;T)
Make rs45517340(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2084597
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517340
ebirs45517340
HLIrs45517340
Exacrs45517340
Varsomers45517340
Maprs45517340
PheGenIrs45517340
hapmaprs45517340
1000 genomesrs45517340
hgdprs45517340
ensemblrs45517340
gopubmedrs45517340
geneviewrs45517340
scholarrs45517340
googlers45517340
pharmgkbrs45517340
gwascentralrs45517340
openSNPrs45517340
23andMers45517340
23andMe allrs45517340
SNP Nexus

SNPshotrs45517340
SNPdbers45517340
MSV3drs45517340
GWAS Ctlgrs45517340
Max Magnitude0
ClinVar
Risk rs45517340(T;T)
Alt rs45517340(T;T)
Reference rs45517340(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.2134598C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043253.2, RCV000190004.2, RCV000201120.2,