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rs137854250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGT;AGGT) 0 common in clinvar
(TAGG;TAGG) 0 common in clinvar
Make rs137854250(-;-)
Make rs137854250(-;TAGG)
ReferenceGRCh38 38.1/141
Chromosome16
Position2072985
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854250
ebirs137854250
HLIrs137854250
Exacrs137854250
Varsomers137854250
Maprs137854250
PheGenIrs137854250
hapmaprs137854250
1000 genomesrs137854250
hgdprs137854250
ensemblrs137854250
gopubmedrs137854250
geneviewrs137854250
scholarrs137854250
googlers137854250
pharmgkbrs137854250
gwascentralrs137854250
openSNPrs137854250
23andMers137854250
23andMe allrs137854250
SNP Nexus

SNPshotrs137854250
SNPdbers137854250
MSV3drs137854250
GWAS Ctlgrs137854250
Max Magnitude0
ClinVar
Risk rs137854250(;)
Alt rs137854250(;)
Reference rs137854250(AGGT;AGGT)
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.2122986_2122989delTAGG
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013215.24, RCV000042461.3,


[PMID 10205261OA-icon.png] Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.


[PMID 10533067] Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.