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rs137853993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGT;CTGT) 0 common in clinvar
Make rs137853993(-;-)
Make rs137853993(-;GTCT)
Make rs137853993(GTCT;GTCT)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2081677
GeneTSC2
is asnp
is mentioned by
dbSNPrs137853993
dbSNP (old)rs137853993
ClinGenrs137853993
ebirs137853993
HLIrs137853993
Exacrs137853993
Gnomadrs137853993
Varsomers137853993
Maprs137853993
PheGenIrs137853993
Biobankrs137853993
1000 genomesrs137853993
hgdprs137853993
ensemblrs137853993
gopubmedrs137853993
geneviewrs137853993
scholarrs137853993
googlers137853993
pharmgkbrs137853993
gwascentralrs137853993
openSNPrs137853993
23andMers137853993
23andMe allrs137853993
SNPshotrs137853993
SNPdbers137853993
MSV3drs137853993
GWAS Ctlgrs137853993
Max Magnitude0
ClinVar
Risk rs137853993(-;-)
Alt rs137853993(-;-)
Reference Rs137853993(CTGT;CTGT)
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.2131678_2131681delGTCT
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043281.2, RCV000489018.1,