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rs137854083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854083(-;-)
Make rs137854083(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position2085302
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854083
ebirs137854083
HLIrs137854083
Exacrs137854083
Varsomers137854083
Maprs137854083
PheGenIrs137854083
hapmaprs137854083
1000 genomesrs137854083
hgdprs137854083
ensemblrs137854083
gopubmedrs137854083
geneviewrs137854083
scholarrs137854083
googlers137854083
pharmgkbrs137854083
gwascentralrs137854083
openSNPrs137854083
23andMers137854083
23andMe allrs137854083
SNP Nexus

SNPshotrs137854083
SNPdbers137854083
MSV3drs137854083
GWAS Ctlgrs137854083
Max Magnitude0
ClinVar
Risk rs137854083(;)
Alt rs137854083(;)
Reference rs137854083(C;C)
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.2135303delC
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013200.23, RCV000042568.2,


[PMID 8634701] Mutation analysis of the TSC2 gene in an African-American family.