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rs137853995

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853995(C;C)
Make rs137853995(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2074254
GeneTSC2
is asnp
is mentioned by
dbSNPrs137853995
ebirs137853995
HLIrs137853995
Exacrs137853995
Varsomers137853995
Maprs137853995
PheGenIrs137853995
hapmaprs137853995
1000 genomesrs137853995
hgdprs137853995
ensemblrs137853995
gopubmedrs137853995
geneviewrs137853995
scholarrs137853995
googlers137853995
pharmgkbrs137853995
gwascentralrs137853995
openSNPrs137853995
23andMers137853995
23andMe allrs137853995
SNP Nexus

SNPshotrs137853995
SNPdbers137853995
MSV3drs137853995
GWAS Ctlgrs137853995
Max Magnitude0
ClinVar
Risk rs137853995(C;C)
Alt rs137853995(C;C)
Reference rs137853995(T;T)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2124255T>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042990.2, RCV000189999.1, RCV000201105.1,