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rs137854128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAT;CAT) 0 common in clinvar
(TCA;TCA) 0 common in clinvar
Make rs137854128(-;-)
Make rs137854128(-;TCA)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2074303
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854128
dbSNP (old)rs137854128
ClinGenrs137854128
ebirs137854128
HLIrs137854128
Exacrs137854128
Varsomers137854128
Maprs137854128
PheGenIrs137854128
Biobankrs137854128
1000 genomesrs137854128
hgdprs137854128
ensemblrs137854128
gopubmedrs137854128
geneviewrs137854128
scholarrs137854128
googlers137854128
pharmgkbrs137854128
gwascentralrs137854128
openSNPrs137854128
23andMers137854128
23andMe allrs137854128
SNP Nexus

SNPshotrs137854128
SNPdbers137854128
MSV3drs137854128
GWAS Ctlgrs137854128
Merged fromRs137854352
Max Magnitude0
ClinVar
Risk rs137854128(-;-) rs137854128(ATC;ATC)
Alt rs137854128(-;-) rs137854128(ATC;ATC)
Reference Rs137854128(TCA;TCA)
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,