Have questions? Visit https://www.reddit.com/r/SNPedia

rs45438205

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45438205(C;T)
Make rs45438205(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2080365
GeneTSC2
is asnp
is mentioned by
dbSNPrs45438205
ebirs45438205
HLIrs45438205
Exacrs45438205
Varsomers45438205
Maprs45438205
PheGenIrs45438205
hapmaprs45438205
1000 genomesrs45438205
hgdprs45438205
ensemblrs45438205
gopubmedrs45438205
geneviewrs45438205
scholarrs45438205
googlers45438205
pharmgkbrs45438205
gwascentralrs45438205
openSNPrs45438205
23andMers45438205
23andMe allrs45438205
SNP Nexus

SNPshotrs45438205
SNPdbers45438205
MSV3drs45438205
GWAS Ctlgrs45438205
Max Magnitude0
ClinVar
Risk rs45438205(T;T)
Alt rs45438205(T;T)
Reference rs45438205(C;C)
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.2130366C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043035.2, RCV000190021.1, RCV000190880.2,