Rs1800972

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is asnp
is mentioned by
dbSNPrs1800972
hapmaprs1800972
hgdprs1800972
ensemblrs1800972
gopubmedrs1800972
scholarrs1800972
googlers1800972
pharmgkbrs1800972
hgvbaseg2prs1800972
medrefsnprs1800972
23andMers1800972
SNP Nexus

GeneDEFB1
Chromosome8
Orientationminus
Position6722832
GenotypeEffect
rs1800972(C;C)normal risk
rs1800972(C;G)normal risk
rs1800972(G;G)reduced risk for Crohn's disease


Genotypes Magnitude Summary
Rs1800972(C;C) normal risk
Rs1800972(C;G) normal risk
Rs1800972(G;G) reduced risk for Crohn's disease
rs1800972(G;G) homozygotes appeared be at less risk (by a factor of 3.3, p=0.01) for Crohn's disease, based on a study of 190 Caucasians.[PMID 17943629]

[PMID 18938660] C-44G rs1800972(G;G) Protective Crohn's disease

Neighborrs11362
Distance24
Neighborrs1799946
Distance8


[PMID 19460328] SNP 668C (-44) alters a NF-kappaB1 putative binding site in non-coding strand of human beta-defensin 1 (DEFB1) and is associated with lepromatous leprosy


[PMID 19712472] Association of a genetic polymorphism (-44 C/G SNP) in the human DEFB1 gene with expression and inducibility of multiple beta-defensins in gingival keratinocytes

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