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rs45515894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Tuberous sclerosis
(A;G) 4 Tuberous sclerosis
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position2062561
GeneTSC2
is asnp
is mentioned by
dbSNPrs45515894
ebirs45515894
HLIrs45515894
Exacrs45515894
Varsomers45515894
Maprs45515894
PheGenIrs45515894
hapmaprs45515894
1000 genomesrs45515894
hgdprs45515894
ensemblrs45515894
gopubmedrs45515894
geneviewrs45515894
scholarrs45515894
googlers45515894
pharmgkbrs45515894
gwascentralrs45515894
openSNPrs45515894
23andMers45515894
23andMe allrs45515894
SNP Nexus

SNPshotrs45515894
SNPdbers45515894
MSV3drs45515894
GWAS Ctlgrs45515894
Max Magnitude5

rs45515894 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 19259131OA-icon.png]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

See also OMIM 191092.0017

OMIM191092
Desc
Variant0017
Relatedalso


ClinVar
Risk rs45515894(A;A)
Alt rs45515894(A;A)
Reference rs45515894(G;G)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2112562G>A
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013216.16, RCV000043450.2,



[PMID 19259131OA-icon.png] Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.