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rs45517386

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517386(A;A)
Make rs45517386(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2086872
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517386
ebirs45517386
HLIrs45517386
Exacrs45517386
Varsomers45517386
Maprs45517386
PheGenIrs45517386
hapmaprs45517386
1000 genomesrs45517386
hgdprs45517386
ensemblrs45517386
gopubmedrs45517386
geneviewrs45517386
scholarrs45517386
googlers45517386
pharmgkbrs45517386
gwascentralrs45517386
openSNPrs45517386
23andMers45517386
23andMe allrs45517386
SNP Nexus

SNPshotrs45517386
SNPdbers45517386
MSV3drs45517386
GWAS Ctlgrs45517386
Max Magnitude0
ClinVar
Risk rs45517386(A,C,T;A,C,T)
Alt rs45517386(A,C,T;A,C,T)
Reference rs45517386(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.2136873G>A; NC_000016.9:g.2136873G>C; NC_000016.9:g.2136873G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042728.2, RCV000201203.1, RCV000042729.2, RCV000043259.2,