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rs137854352

From SNPedia

Merged intors137854128
Orientationplus
Stabilizedplus
Geno Mag Summary
(CAT;CAT) 0 common in clinvar
Make rs137854352(-;-)
Make rs137854352(-;ATC)
Make rs137854352(ATC;ATC)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2074302
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854352
dbSNP (old)rs137854352
ClinGenrs137854352
ebirs137854352
HLIrs137854352
Exacrs137854352
Gnomadrs137854352
Varsomers137854352
Maprs137854352
PheGenIrs137854352
Biobankrs137854352
1000 genomesrs137854352
hgdprs137854352
ensemblrs137854352
gopubmedrs137854352
geneviewrs137854352
scholarrs137854352
googlers137854352
pharmgkbrs137854352
gwascentralrs137854352
openSNPrs137854352
23andMers137854352
23andMe allrs137854352
SNP Nexus

SNPshotrs137854352
SNPdbers137854352
MSV3drs137854352
GWAS Ctlgrs137854352
StatusMerged into rs137854128
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs137854352(CAT;CAT)
Significance Probable-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.2124304_2124306delTCA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042853.3, RCV000201194.1,