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rs45512692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs45512692(A;T)
Make rs45512692(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2048649
GeneNTHL1, TSC2
is asnp
is mentioned by
dbSNPrs45512692
ebirs45512692
HLIrs45512692
Exacrs45512692
Varsomers45512692
Maprs45512692
PheGenIrs45512692
hapmaprs45512692
1000 genomesrs45512692
hgdprs45512692
ensemblrs45512692
gopubmedrs45512692
geneviewrs45512692
scholarrs45512692
googlers45512692
pharmgkbrs45512692
gwascentralrs45512692
openSNPrs45512692
23andMers45512692
23andMe allrs45512692
SNP Nexus

SNPshotrs45512692
SNPdbers45512692
MSV3drs45512692
GWAS Ctlgrs45512692
Max Magnitude0
OMIM191092
Desc
Variant0003
Relatedalso
ClinVar
Risk rs45512692(T;T)
Alt rs45512692(T;T)
Reference rs45512692(A;A)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome
Variation info
Gene NTHL1 TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2098650A>T
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013202.16, RCV000042837.2,


[PMID 8825048OA-icon.png] Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.