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rs45517222

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45517222(C;T)
Make rs45517222(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2072879
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517222
ebirs45517222
HLIrs45517222
Exacrs45517222
Varsomers45517222
Maprs45517222
PheGenIrs45517222
hapmaprs45517222
1000 genomesrs45517222
hgdprs45517222
ensemblrs45517222
gopubmedrs45517222
geneviewrs45517222
scholarrs45517222
googlers45517222
pharmgkbrs45517222
gwascentralrs45517222
openSNPrs45517222
23andMers45517222
23andMe allrs45517222
SNP Nexus

SNPshotrs45517222
SNPdbers45517222
MSV3drs45517222
GWAS Ctlgrs45517222
Max Magnitude0
ClinVar
Risk rs45517222(T;T)
Alt rs45517222(T;T)
Reference rs45517222(C;C)
Significance 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.2122880C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043398.2, RCV000201032.1,