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rs397515247

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515247(C;C)
Make rs397515247(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2071618
GeneTSC2
is asnp
is mentioned by
dbSNPrs397515247
ebirs397515247
HLIrs397515247
Exacrs397515247
Varsomers397515247
Maprs397515247
PheGenIrs397515247
hapmaprs397515247
1000 genomesrs397515247
hgdprs397515247
ensemblrs397515247
gopubmedrs397515247
geneviewrs397515247
scholarrs397515247
googlers397515247
pharmgkbrs397515247
gwascentralrs397515247
openSNPrs397515247
23andMers397515247
23andMe allrs397515247
SNP Nexus

SNPshotrs397515247
SNPdbers397515247
MSV3drs397515247
GWAS Ctlgrs397515247
Max Magnitude0
ClinVar
Risk rs397515247(C;C)
Alt rs397515247(C;C)
Reference rs397515247(T;T)
Significance Pathogenic
Disease not provided Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN not provided Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2121619T>A; NC_000016.9:g.2121619T>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000190068.1, RCV000055559.1,