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rs137854371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AT) 6.3 Tuberous Sclerosis Complex
(TA;TA) 0 common in clinvar
Make rs137854371(-;-)
Make rs137854371(AT;AT)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position2070499
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854371
dbSNP (classic)rs137854371
ClinGenrs137854371
ebirs137854371
HLIrs137854371
Exacrs137854371
Gnomadrs137854371
Varsomers137854371
LitVarrs137854371
Maprs137854371
PheGenIrs137854371
Biobankrs137854371
1000 genomesrs137854371
hgdprs137854371
ensemblrs137854371
geneviewrs137854371
scholarrs137854371
googlers137854371
pharmgkbrs137854371
gwascentralrs137854371
openSNPrs137854371
23andMers137854371
SNPshotrs137854371
SNPdbers137854371
MSV3drs137854371
GWAS Ctlgrs137854371
Max Magnitude6.3
ClinVar
Risk rs137854371(-;-)
Alt rs137854371(-;-)
Reference Rs137854371(TA;TA)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2120500_2120501delAT
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042885.2, RCV000317368.1,