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rs45517148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs45517148(G;T)
Make rs45517148(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2060790
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517148
ebirs45517148
HLIrs45517148
Exacrs45517148
Varsomers45517148
Maprs45517148
PheGenIrs45517148
hapmaprs45517148
1000 genomesrs45517148
hgdprs45517148
ensemblrs45517148
gopubmedrs45517148
geneviewrs45517148
scholarrs45517148
googlers45517148
pharmgkbrs45517148
gwascentralrs45517148
openSNPrs45517148
23andMers45517148
23andMe allrs45517148
SNP Nexus

SNPshotrs45517148
SNPdbers45517148
MSV3drs45517148
GWAS Ctlgrs45517148
Max Magnitude0
OMIM191092
Desc
Variant0010
Relatedalso


ClinVar
Risk rs45517148(A,T;A,T)
Alt rs45517148(A,T;A,T)
Reference rs45517148(G;G)
Significance Pathogenic
Disease not specified Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Variation info
Gene TSC2
CLNDBN not specified Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Reversed 0
HGVS NC_000016.9:g.2110791G>A; NC_000016.9:g.2110791G>T
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000189975.1, RCV000230966.1, RCV000042986.2, RCV000055263.5,



[PMID 10823953OA-icon.png] Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.


[PMID 11112665OA-icon.png] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.