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rs45462194

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45462194(A;A)
Make rs45462194(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2081595
GeneTSC2
is asnp
is mentioned by
dbSNPrs45462194
ebirs45462194
HLIrs45462194
Exacrs45462194
Varsomers45462194
Maprs45462194
PheGenIrs45462194
hapmaprs45462194
1000 genomesrs45462194
hgdprs45462194
ensemblrs45462194
gopubmedrs45462194
geneviewrs45462194
scholarrs45462194
googlers45462194
pharmgkbrs45462194
gwascentralrs45462194
openSNPrs45462194
23andMers45462194
23andMe allrs45462194
SNP Nexus

SNPshotrs45462194
SNPdbers45462194
MSV3drs45462194
GWAS Ctlgrs45462194
Max Magnitude0
ClinVar
Risk rs45462194(A;A)
Alt rs45462194(A;A)
Reference rs45462194(G;G)
Significance Probable-Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2131596G>A
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043416.2, RCV000201026.1,