RXFP2, relaxin family peptide receptor 2, 122042

N. diseases: 16; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918303
rs121918303
Entrez Id: 122042
Gene Symbol: RXFP2
RXFP2
CUI: C0010417
Disease:
Cryptorchidism 		0.740 GeneticVariation BEFREE Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations. 20636340 2011
dbSNP: rs121918303
rs121918303
Entrez Id: 122042
Gene Symbol: RXFP2
RXFP2
CUI: C0010417
Disease:
Cryptorchidism 		0.740 GeneticVariation BEFREE Our results show in fact that the same mutation is present in the Moroccan population, but an association between cryptorchidism and the T222P mutation was not found. 18772597 2008
dbSNP: rs121918303
rs121918303
Entrez Id: 122042
Gene Symbol: RXFP2
RXFP2
CUI: C0010417
Disease:
Cryptorchidism 		0.740 GeneticVariation BEFREE Our results suggest that the T222P mutation cannot be considered either causative or a susceptibility factor for cryptorchidism. 18073304 2008
dbSNP: rs121918303
rs121918303
Entrez Id: 122042
Gene Symbol: RXFP2
RXFP2
CUI: C0010417
Disease:
Cryptorchidism 		0.740 GeneticVariation BEFREE Mutations in the INSL3 gene and the LGR8 T222P mutation are known to cause cryptorchidism. 15579790 2004
dbSNP: rs121918303
rs121918303
Entrez Id: 122042
Gene Symbol: RXFP2
RXFP2
CUI: C0010417
Disease:
Cryptorchidism 		0.740 GeneticVariation UNIPROT Mutations of the GREAT gene cause cryptorchidism. 12217959 2002