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rs137853983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs137853983(-;-)
Make rs137853983(-;CCT)
Make rs137853983(CCT;CCT)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2062522
GeneTSC2
is asnp
is mentioned by
dbSNPrs137853983
dbSNP (old)rs137853983
ClinGenrs137853983
ebirs137853983
HLIrs137853983
Exacrs137853983
Gnomadrs137853983
Varsomers137853983
Maprs137853983
PheGenIrs137853983
Biobankrs137853983
1000 genomesrs137853983
hgdprs137853983
ensemblrs137853983
gopubmedrs137853983
geneviewrs137853983
scholarrs137853983
googlers137853983
pharmgkbrs137853983
gwascentralrs137853983
openSNPrs137853983
23andMers137853983
23andMe allrs137853983
SNPshotrs137853983
SNPdbers137853983
MSV3drs137853983
GWAS Ctlgrs137853983
Max Magnitude0
ClinVar
Risk rs137853983(-;-)
Alt rs137853983(-;-)
Reference Rs137853983(CTC;CTC)
Significance Probable-Pathogenic
Disease Tuberous sclerosis syndrome not specified Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not specified Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2112523_2112525delCCT
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042906.2, RCV000190056.1, RCV000475301.1,