P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159988
rs724159988
Entrez Id: 55214
Gene Symbol: P3H2
P3H2
CUI: C3280346
Disease:
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		0.800 GeneticVariation UNIPROT
dbSNP: rs724159988
rs724159988
Entrez Id: 55214
Gene Symbol: P3H2
P3H2
CUI: C3280346
Disease:
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		A 0.800 CausalMutation CLINVAR
dbSNP: rs6787151
rs6787151
Entrez Id: 55214
Gene Symbol: P3H2
P3H2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs724160006
rs724160006
Entrez Id: 55214
Gene Symbol: P3H2
P3H2
CUI: C3280346
Disease:
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		A 0.700 CausalMutation CLINVAR
dbSNP: rs875989838
rs875989838
Entrez Id: 55214;101929152
Gene Symbol: P3H2;P3H2-AS1
P3H2;P3H2-AS1
CUI: C3280346
Disease:
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		C 0.700 CausalMutation CLINVAR
dbSNP: rs751877902
rs751877902
Entrez Id: 55214
Gene Symbol: P3H2
P3H2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e., USP39 c.*208G > C, PZP p.Arg680Ter, LEPREL1 p.Pro636Ser, SLIT3 p.Arg154Cys, CREB3 p.Lys157Glu, and ING1 p.Pro319Leu. 31754952 2020
dbSNP: rs751877902
rs751877902
Entrez Id: 55214
Gene Symbol: P3H2
P3H2
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e., USP39 c.*208G > C, PZP p.Arg680Ter, LEPREL1 p.Pro636Ser, SLIT3 p.Arg154Cys, CREB3 p.Lys157Glu, and ING1 p.Pro319Leu. 31754952 2020