Gene: NLRP7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly. 25082979

2014
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. 23201303

2013
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles. 22315435

2012
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR An NLRP7-containing inflammasome mediates recognition of microbial lipopeptides in human macrophages. 22361007

2012
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage. 21659348

2011
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure. 19054016

2009
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. 19246479

2009
dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. 16462743

2006
dbSNP: rs104895502
rs104895502
NCR1 ; NLRP7
T 0.800 CausalMutation CLINVAR

dbSNP: rs104895502
rs104895502
NCR1 ; NLRP7
0.800 GeneticVariation UNIPROT

dbSNP: rs104895502
rs104895502
NCR1 ; NLRP7
G 0.800 CausalMutation CLINVAR

dbSNP: rs104895503
rs104895503
NCR1 ; NLRP7
C 0.800 CausalMutation CLINVAR

dbSNP: rs104895503
rs104895503
NCR1 ; NLRP7
0.800 GeneticVariation UNIPROT

dbSNP: rs104895506
rs104895506
NCR1 ; NLRP7
0.800 GeneticVariation UNIPROT

dbSNP: rs104895548
rs104895548
NLRP7
C 0.800 CausalMutation CLINVAR

dbSNP: rs104895548
rs104895548
NLRP7
0.800 GeneticVariation UNIPROT

dbSNP: rs104895549
rs104895549
NCR1 ; NLRP7
0.800 GeneticVariation UNIPROT

dbSNP: rs104895549
rs104895549
NCR1 ; NLRP7
A 0.800 CausalMutation CLINVAR

dbSNP: rs104895512
rs104895512
NCR1 ; NLRP7
C 0.700 CausalMutation CLINVAR The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss. 23354651

2013
dbSNP: rs104895512
rs104895512
NCR1 ; NLRP7
C 0.700 CausalMutation CLINVAR NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. 19066229

2009
dbSNP: rs104895512
rs104895512
NCR1 ; NLRP7
C 0.700 CausalMutation CLINVAR A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. 18039680

2008
dbSNP: rs104895504
rs104895504
NLRP7
T 0.700 CausalMutation CLINVAR

dbSNP: rs104895505
rs104895505
NCR1 ; NLRP7
T 0.700 CausalMutation CLINVAR

dbSNP: rs104895525
rs104895525
NCR1 ; NLRP7
0.700 GeneticVariation UNIPROT

dbSNP: rs104895530
rs104895530
NLRP7
A 0.700 CausalMutation CLINVAR