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rs45517118

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517118(A;A)
Make rs45517118(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2056242
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517118
ebirs45517118
HLIrs45517118
Exacrs45517118
Varsomers45517118
Maprs45517118
PheGenIrs45517118
hapmaprs45517118
1000 genomesrs45517118
hgdprs45517118
ensemblrs45517118
gopubmedrs45517118
geneviewrs45517118
scholarrs45517118
googlers45517118
pharmgkbrs45517118
gwascentralrs45517118
openSNPrs45517118
23andMers45517118
23andMe allrs45517118
SNP Nexus

SNPshotrs45517118
SNPdbers45517118
MSV3drs45517118
GWAS Ctlgrs45517118
Max Magnitude0
ClinVar
Risk rs45517118(A,T;A,T)
Alt rs45517118(A,T;A,T)
Reference rs45517118(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.2106243G>A; NC_000016.9:g.2106243G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042639.2, RCV000042640.2, RCV000201082.1,