Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1375722963
rs1375722963
Entrez Id: 10857
Gene Symbol: PGRMC1
PGRMC1
CUI: C0025322
Disease:
Premature Menopause 		0.010 GeneticVariation BEFREE In this study, the coding exons of PGRMC1 were sequenced among 196 Chinese women with premature ovarian failure (POF) and 200 controls, and one novel missense mutation was identified (C.556C>T, p. Pro186Ser) in the POF group and one novel SNP (C.533C>T, p. Trh177Ile) was identified in both groups. 25246111 2014
dbSNP: rs1375722963
rs1375722963
Entrez Id: 10857
Gene Symbol: PGRMC1
PGRMC1
CUI: C0085215
Disease:
Ovarian Failure, Premature 		0.010 GeneticVariation BEFREE In this study, the coding exons of PGRMC1 were sequenced among 196 Chinese women with premature ovarian failure (POF) and 200 controls, and one novel missense mutation was identified (C.556C>T, p. Pro186Ser) in the POF group and one novel SNP (C.533C>T, p. Trh177Ile) was identified in both groups. 25246111 2014
dbSNP: rs147630867
rs147630867
Entrez Id: 10857
Gene Symbol: PGRMC1
PGRMC1
CUI: C0025322
Disease:
Premature Menopause 		0.010 GeneticVariation BEFREE We show that the H165R mutation associated with POF abolishes the binding of cytochrome P450 7A1 (CYP7A1) to PGRMC1. 18782852 2008
dbSNP: rs147630867
rs147630867
Entrez Id: 10857
Gene Symbol: PGRMC1
PGRMC1
CUI: C0085215
Disease:
Ovarian Failure, Premature 		0.010 GeneticVariation BEFREE We show that the H165R mutation associated with POF abolishes the binding of cytochrome P450 7A1 (CYP7A1) to PGRMC1. 18782852 2008