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rs137854193

From SNPedia

Merged intors137854175
Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAA;CAAA) 0 common in clinvar
Make rs137854193(-;-)
Make rs137854193(-;CAAA)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2084998
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854193
dbSNP (old)rs137854193
ClinGenrs137854193
ebirs137854193
HLIrs137854193
Exacrs137854193
Varsomers137854193
Maprs137854193
PheGenIrs137854193
Biobankrs137854193
1000 genomesrs137854193
hgdprs137854193
ensemblrs137854193
gopubmedrs137854193
geneviewrs137854193
scholarrs137854193
googlers137854193
pharmgkbrs137854193
gwascentralrs137854193
openSNPrs137854193
23andMers137854193
23andMe allrs137854193
SNP Nexus

SNPshotrs137854193
SNPdbers137854193
MSV3drs137854193
GWAS Ctlgrs137854193
StatusMerged into rs137854175
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs137854193(CAAA;CAAA)
Significance 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.2135002_2135005delACAA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042563.3, RCV000201030.2,