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rs137854337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs137854337(-;-)
Make rs137854337(-;TACT)
Make rs137854337(TACT;TACT)
ReferenceGRCh38 38.1/141
Chromosome16
Position2071896
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854337
ebirs137854337
HLIrs137854337
Exacrs137854337
Varsomers137854337
Maprs137854337
PheGenIrs137854337
hapmaprs137854337
1000 genomesrs137854337
hgdprs137854337
ensemblrs137854337
gopubmedrs137854337
geneviewrs137854337
scholarrs137854337
googlers137854337
pharmgkbrs137854337
gwascentralrs137854337
openSNPrs137854337
23andMers137854337
23andMe allrs137854337
SNP Nexus

SNPshotrs137854337
SNPdbers137854337
MSV3drs137854337
GWAS Ctlgrs137854337
Max Magnitude0
ClinVar
Risk rs137854337(TACT;TACT)
Alt rs137854337(TACT;TACT)
Reference rs137854337(;)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2121894_2121897dupTACT
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013203.23, RCV000043367.2,


[PMID 9361032] Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.