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rs45517213

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517213(A;A)
Make rs45517213(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2072251
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517213
ebirs45517213
HLIrs45517213
Exacrs45517213
Varsomers45517213
Maprs45517213
PheGenIrs45517213
hapmaprs45517213
1000 genomesrs45517213
hgdprs45517213
ensemblrs45517213
gopubmedrs45517213
geneviewrs45517213
scholarrs45517213
googlers45517213
pharmgkbrs45517213
gwascentralrs45517213
openSNPrs45517213
23andMers45517213
23andMe allrs45517213
SNP Nexus

SNPshotrs45517213
SNPdbers45517213
MSV3drs45517213
GWAS Ctlgrs45517213
Max Magnitude0
ClinVar
Risk rs45517213(A;A)
Alt rs45517213(A;A)
Reference rs45517213(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.2122252G>A
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043001.2, RCV000201180.1,