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rs45517349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs45517349(G;T)
Make rs45517349(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2084966
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517349
ebirs45517349
HLIrs45517349
Exacrs45517349
Varsomers45517349
Maprs45517349
PheGenIrs45517349
hapmaprs45517349
1000 genomesrs45517349
hgdprs45517349
ensemblrs45517349
gopubmedrs45517349
geneviewrs45517349
scholarrs45517349
googlers45517349
pharmgkbrs45517349
gwascentralrs45517349
openSNPrs45517349
23andMers45517349
23andMe allrs45517349
SNP Nexus

SNPshotrs45517349
SNPdbers45517349
MSV3drs45517349
GWAS Ctlgrs45517349
Max Magnitude0
OMIM191092
Desc
Variant0011
Relatedalso


ClinVar
Risk rs45517349(T;T)
Alt rs45517349(T;T)
Reference rs45517349(G;G)
Significance Untested
Disease Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2134967G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042758.2,



[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.