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rs45517398

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs45517398(C;C)
Make rs45517398(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2088129
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517398
ebirs45517398
HLIrs45517398
Exacrs45517398
Varsomers45517398
Maprs45517398
PheGenIrs45517398
hapmaprs45517398
1000 genomesrs45517398
hgdprs45517398
ensemblrs45517398
gopubmedrs45517398
geneviewrs45517398
scholarrs45517398
googlers45517398
pharmgkbrs45517398
gwascentralrs45517398
openSNPrs45517398
23andMers45517398
23andMe allrs45517398
SNP Nexus

SNPshotrs45517398
SNPdbers45517398
MSV3drs45517398
GWAS Ctlgrs45517398
Max Magnitude0
ClinVar
Risk rs45517398(C;C)
Alt rs45517398(C;C)
Reference rs45517398(T;T)
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.2138130T>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042612.2, RCV000190040.1,