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rs45517212

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517212(A;A)
Make rs45517212(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position2072240
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517212
ebirs45517212
HLIrs45517212
Exacrs45517212
Varsomers45517212
Maprs45517212
PheGenIrs45517212
hapmaprs45517212
1000 genomesrs45517212
hgdprs45517212
ensemblrs45517212
gopubmedrs45517212
geneviewrs45517212
scholarrs45517212
googlers45517212
pharmgkbrs45517212
gwascentralrs45517212
openSNPrs45517212
23andMers45517212
23andMe allrs45517212
SNP Nexus

SNPshotrs45517212
SNPdbers45517212
MSV3drs45517212
GWAS Ctlgrs45517212
Max Magnitude0
ClinVar
Risk rs45517212(A;A)
Alt rs45517212(A;A)
Reference rs45517212(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.2122241G>A
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042995.2, RCV000229589.1,