Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434534
rs121434534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. 24705274 2014
dbSNP: rs121434536
rs121434536
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. 24705274 2014
dbSNP: rs78310315
rs78310315
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. 24705274 2014
dbSNP: rs12907866
rs12907866
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1314691
Disease:
Age at menarche
A 0.800 GeneticVariation GWASCAT Genome-wide association study of age at menarche in African-American women. 23599027 2013
dbSNP: rs12907866
rs12907866
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1314691
Disease:
Age at menarche
A 0.800 GeneticVariation GWASDB Genome-wide association study of age at menarche in African-American women. 23599027 2013
dbSNP: rs2414095
rs2414095
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0202022
Disease:
Follicle stimulating hormone measurement
A 0.800 GeneticVariation GWASDB We identified a novel genetic region at 15q21.2 (rs2414095 in CYP19A1), which was significantly associated with oestradiol and FSH in the Chinese population at a genome-wide significant level (p=6.54×10(-31) and 1.59×10(-16), respectively). 24049095 2013
dbSNP: rs2414095
rs2414095
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0202022
Disease:
Follicle stimulating hormone measurement
A 0.800 GeneticVariation GWASCAT We identified a novel genetic region at 15q21.2 (rs2414095 in CYP19A1), which was significantly associated with oestradiol and FSH in the Chinese population at a genome-wide significant level (p=6.54×10(-31) and 1.59×10(-16), respectively). 24049095 2013
dbSNP: rs121434534
rs121434534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Effect of testosterone and estradiol in a man with aromatase deficiency. 9211678 1997
dbSNP: rs121434536
rs121434536
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Effect of testosterone and estradiol in a man with aromatase deficiency. 9211678 1997
dbSNP: rs78310315
rs78310315
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Effect of testosterone and estradiol in a man with aromatase deficiency. 9211678 1997
dbSNP: rs121434534
rs121434534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. 8530621 1995
dbSNP: rs121434536
rs121434536
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. 8530621 1995
dbSNP: rs78310315
rs78310315
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. 8530621 1995
dbSNP: rs121434534
rs121434534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 8265607 1993
dbSNP: rs121434536
rs121434536
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 8265607 1993
dbSNP: rs78310315
rs78310315
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 8265607 1993
dbSNP: rs121434534
rs121434534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs121434536
rs121434536
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs78310315
rs78310315
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs80051519
rs80051519
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs80051519
rs80051519
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.800 GeneticVariation UNIPROT
dbSNP: rs765057534
rs765057534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.710 GeneticVariation BEFREE R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy. 24705274 2014
dbSNP: rs765057534
rs765057534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1960539
Disease:
Aromatase deficiency
0.710 GeneticVariation UNIPROT
dbSNP: rs10519302
rs10519302
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs12591359
rs12591359
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0337434
Disease:
Estradiol measurement
A 0.700 GeneticVariation GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883 2019