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rs137854074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854074(A;A)
Make rs137854074(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2079667
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854074
dbSNP (old)rs137854074
ClinGenrs137854074
ebirs137854074
HLIrs137854074
Exacrs137854074
Gnomadrs137854074
Varsomers137854074
Maprs137854074
PheGenIrs137854074
Biobankrs137854074
1000 genomesrs137854074
hgdprs137854074
ensemblrs137854074
gopubmedrs137854074
geneviewrs137854074
scholarrs137854074
googlers137854074
pharmgkbrs137854074
gwascentralrs137854074
openSNPrs137854074
23andMers137854074
23andMe allrs137854074
SNPshotrs137854074
SNPdbers137854074
MSV3drs137854074
GWAS Ctlgrs137854074
Max Magnitude0
ClinVar
Risk rs137854074(A;A) rs137854074(T;T)
Alt rs137854074(A;A) rs137854074(T;T)
Reference Rs137854074(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2129668C>A; NC_000016.9:g.2129668C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043094.2, RCV000414024.1, RCV000462249.1,