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rs137854307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs137854307(-;-)
Make rs137854307(-;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2084643
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854307
dbSNP (classic)rs137854307
ClinGenrs137854307
ebirs137854307
HLIrs137854307
Exacrs137854307
Gnomadrs137854307
Varsomers137854307
LitVarrs137854307
Maprs137854307
PheGenIrs137854307
Biobankrs137854307
1000 genomesrs137854307
hgdprs137854307
ensemblrs137854307
geneviewrs137854307
scholarrs137854307
googlers137854307
pharmgkbrs137854307
gwascentralrs137854307
openSNPrs137854307
23andMers137854307
SNPshotrs137854307
SNPdbers137854307
MSV3drs137854307
GWAS Ctlgrs137854307
Max Magnitude0
ClinVar
Risk rs137854307(-;-) rs137854307(AG;AG)
Alt rs137854307(-;-) rs137854307(AG;AG)
Reference Rs137854307(GA;GA)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000016.9:g.2134645_2134646delAG
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042555.3, RCV000491261.1,