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rs137854023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs137854023(-;A)
Make rs137854023(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2064391
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854023
dbSNP (old)rs137854023
ClinGenrs137854023
ebirs137854023
HLIrs137854023
Exacrs137854023
Gnomadrs137854023
Varsomers137854023
Maprs137854023
PheGenIrs137854023
Biobankrs137854023
1000 genomesrs137854023
hgdprs137854023
ensemblrs137854023
gopubmedrs137854023
geneviewrs137854023
scholarrs137854023
googlers137854023
pharmgkbrs137854023
gwascentralrs137854023
openSNPrs137854023
23andMers137854023
23andMe allrs137854023
SNPshotrs137854023
SNPdbers137854023
MSV3drs137854023
GWAS Ctlgrs137854023
Max Magnitude0
ClinVar
Risk rs137854023(A;A)
Alt rs137854023(A;A)
Reference Rs137854023(-;-)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2114392dupA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043401.2, RCV000484376.1,