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rs397514913

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514913(A;A)
Make rs397514913(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position2076116
GeneTSC2
is asnp
is mentioned by
dbSNPrs397514913
ebirs397514913
HLIrs397514913
Exacrs397514913
Varsomers397514913
Maprs397514913
PheGenIrs397514913
hapmaprs397514913
1000 genomesrs397514913
hgdprs397514913
ensemblrs397514913
gopubmedrs397514913
geneviewrs397514913
scholarrs397514913
googlers397514913
pharmgkbrs397514913
gwascentralrs397514913
openSNPrs397514913
23andMers397514913
23andMe allrs397514913
SNP Nexus

SNPshotrs397514913
SNPdbers397514913
MSV3drs397514913
GWAS Ctlgrs397514913
Max Magnitude0
ClinVar
Risk rs397514913(A;A)
Alt rs397514913(A;A)
Reference rs397514913(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.2126117G>A
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000055089.1, RCV000233779.1,