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rs45517096

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs45517096(A;G)
Make rs45517096(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2053340
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517096
ebirs45517096
HLIrs45517096
Exacrs45517096
Varsomers45517096
Maprs45517096
PheGenIrs45517096
hapmaprs45517096
1000 genomesrs45517096
hgdprs45517096
ensemblrs45517096
gopubmedrs45517096
geneviewrs45517096
scholarrs45517096
googlers45517096
pharmgkbrs45517096
gwascentralrs45517096
openSNPrs45517096
23andMers45517096
23andMe allrs45517096
SNP Nexus

SNPshotrs45517096
SNPdbers45517096
MSV3drs45517096
GWAS Ctlgrs45517096
Max Magnitude0
ClinVar
Risk rs45517096(G;G)
Alt rs45517096(G;G)
Reference rs45517096(A;A)
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.2103341A>G
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042457.2, RCV000201113.1,