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rs137854001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854001(-;-)
Make rs137854001(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2081775
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854001
dbSNP (classic)rs137854001
ClinGenrs137854001
ebirs137854001
HLIrs137854001
Exacrs137854001
Gnomadrs137854001
Varsomers137854001
LitVarrs137854001
Maprs137854001
PheGenIrs137854001
Biobankrs137854001
1000 genomesrs137854001
hgdprs137854001
ensemblrs137854001
geneviewrs137854001
scholarrs137854001
googlers137854001
pharmgkbrs137854001
gwascentralrs137854001
openSNPrs137854001
23andMers137854001
23andMe allrs137854001
SNPshotrs137854001
SNPdbers137854001
MSV3drs137854001
GWAS Ctlgrs137854001
Max Magnitude0
ClinVar
Risk rs137854001(-;-)
Alt rs137854001(-;-)
Reference Rs137854001(C;C)
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.2131776delC
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042828.2, RCV000493012.1,