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rs137854427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854427(-;-)
Make rs137854427(-;G)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position2084445
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854427
dbSNP (old)rs137854427
ClinGenrs137854427
ebirs137854427
HLIrs137854427
Exacrs137854427
Gnomadrs137854427
Varsomers137854427
Maprs137854427
PheGenIrs137854427
Biobankrs137854427
1000 genomesrs137854427
hgdprs137854427
ensemblrs137854427
gopubmedrs137854427
geneviewrs137854427
scholarrs137854427
googlers137854427
pharmgkbrs137854427
gwascentralrs137854427
openSNPrs137854427
23andMers137854427
23andMe allrs137854427
SNPshotrs137854427
SNPdbers137854427
MSV3drs137854427
GWAS Ctlgrs137854427
Max Magnitude0
ClinVar
Risk rs137854427(-;-)
Alt rs137854427(-;-)
Reference Rs137854427(G;G)
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.2134446delG
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043079.2, RCV000298867.1,