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rs2168101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2168101(G;T)
Make rs2168101(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position8233861
GeneLMO1
is asnp
is mentioned by
dbSNPrs2168101
ebirs2168101
HLIrs2168101
Exacrs2168101
Varsomers2168101
Maprs2168101
PheGenIrs2168101
hapmaprs2168101
1000 genomesrs2168101
hgdprs2168101
ensemblrs2168101
gopubmedrs2168101
geneviewrs2168101
scholarrs2168101
googlers2168101
pharmgkbrs2168101
gwascentralrs2168101
openSNPrs2168101
23andMers2168101
23andMe allrs2168101
SNP Nexus

SNPshotrs2168101
SNPdbers2168101
MSV3drs2168101
GWAS Ctlgrs2168101
Max Magnitude0
? (G;G) (G;T) (T;T) 28
doi:10.1038/nature15540 Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism: SNP rs2168101 G>T is the most highly associated variant (combined p = 7.47 × 10e−29, odds ratio 0.65, CI: 0.60–0.70), and resides in a super-enhancer defined by extensive acetylation of histone H3 lysine 27 within the first intron of the LMO1 gene. The ancestral G allele that is associated with tumour formation resides in a conserved GATA transcription factor binding motif. The newly evolved protective TATA allele is associated with decreased total LMO1 expression (p = 0.028) in neuroblastoma primary tumours.
ClinVar
Risk rs2168101(T;T)
Alt rs2168101(T;T)
Reference rs2168101(G;G)
Significance Non-pathogenic
Disease LIM DOMAIN ONLY-1 POLYMORPHISM
Variation info
Gene LMO1
CLNDBN LIM DOMAIN ONLY-1 POLYMORPHISM
Reversed 1
HGVS NC_000011.9:g.8255408C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207127.1,