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rs137854175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAA;ACAA) 0 common in clinvar
(CAAA;CAAA) 0 common in clinvar
Make rs137854175(-;-)
Make rs137854175(-;ACAA)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2085001
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854175
dbSNP (old)rs137854175
ClinGenrs137854175
ebirs137854175
HLIrs137854175
Exacrs137854175
Gnomadrs137854175
Varsomers137854175
Maprs137854175
PheGenIrs137854175
Biobankrs137854175
1000 genomesrs137854175
hgdprs137854175
ensemblrs137854175
gopubmedrs137854175
geneviewrs137854175
scholarrs137854175
googlers137854175
pharmgkbrs137854175
gwascentralrs137854175
openSNPrs137854175
23andMers137854175
23andMe allrs137854175
SNP Nexus

SNPshotrs137854175
SNPdbers137854175
MSV3drs137854175
GWAS Ctlgrs137854175
Merged fromRs137854193
Max Magnitude0
ClinVar
Risk rs137854175(-;-) Rs137854175(CAAA;CAAA)
Alt rs137854175(-;-) Rs137854175(CAAA;CAAA)
Reference Rs137854175(ACAA;ACAA)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2 not provided
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2 not provided
Reversed 0
HGVS NC_000016.9:g.2135002_2135005delACAA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042563.3, RCV000201030.2, RCV000360616.1,