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rs45517399

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517399(A;A)
Make rs45517399(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2088140
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517399
ebirs45517399
HLIrs45517399
Exacrs45517399
Varsomers45517399
Maprs45517399
PheGenIrs45517399
hapmaprs45517399
1000 genomesrs45517399
hgdprs45517399
ensemblrs45517399
gopubmedrs45517399
geneviewrs45517399
scholarrs45517399
googlers45517399
pharmgkbrs45517399
gwascentralrs45517399
openSNPrs45517399
23andMers45517399
23andMe allrs45517399
SNP Nexus

SNPshotrs45517399
SNPdbers45517399
MSV3drs45517399
GWAS Ctlgrs45517399
Max Magnitude0
ClinVar
Risk rs45517399(A,C,T;A,C,T)
Alt rs45517399(A,C,T;A,C,T)
Reference rs45517399(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.2138141G>A; NC_000016.9:g.2138141G>C; NC_000016.9:g.2138141G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042685.2, RCV000201137.1, RCV000042686.2, RCV000042687.2,