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rs45517395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517395(A;A)
Make rs45517395(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position2088117
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517395
ebirs45517395
HLIrs45517395
Exacrs45517395
Varsomers45517395
Maprs45517395
PheGenIrs45517395
hapmaprs45517395
1000 genomesrs45517395
hgdprs45517395
ensemblrs45517395
gopubmedrs45517395
geneviewrs45517395
scholarrs45517395
googlers45517395
pharmgkbrs45517395
gwascentralrs45517395
openSNPrs45517395
23andMers45517395
23andMe allrs45517395
SNP Nexus

SNPshotrs45517395
SNPdbers45517395
MSV3drs45517395
GWAS Ctlgrs45517395
Max Magnitude0
ClinVar
Risk rs45517395(A,C;A,C)
Alt rs45517395(A,C;A,C)
Reference rs45517395(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2138118G>A; NC_000016.9:g.2138118G>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043197.2, RCV000129852.2, RCV000043198.2, RCV000201077.1,