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rs397515169

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515169(A;T)
Make rs397515169(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position2081593
GeneTSC2
is asnp
is mentioned by
dbSNPrs397515169
ebirs397515169
HLIrs397515169
Exacrs397515169
Varsomers397515169
Maprs397515169
PheGenIrs397515169
hapmaprs397515169
1000 genomesrs397515169
hgdprs397515169
ensemblrs397515169
gopubmedrs397515169
geneviewrs397515169
scholarrs397515169
googlers397515169
pharmgkbrs397515169
gwascentralrs397515169
openSNPrs397515169
23andMers397515169
23andMe allrs397515169
SNP Nexus

SNPshotrs397515169
SNPdbers397515169
MSV3drs397515169
GWAS Ctlgrs397515169
Max Magnitude0
ClinVar
Risk rs397515169(G,T;G,T)
Alt rs397515169(G,T;G,T)
Reference rs397515169(A;A)
Significance Probable-Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2131594A>G; NC_000016.9:g.2131594A>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000225986.1, RCV000055453.1,