P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs724159988
rs724159988
1.000 3 189973934 missense variant C/A snv
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
0.800 0
dbSNP: rs6787151
rs6787151
3 190089843 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs724160006
rs724160006
1.000 3 189995367 stop gained G/A snv
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
0.700 0
dbSNP: rs875989838
rs875989838
1.000 3 190120435 frameshift variant G/-;GG delins
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
0.700 0
dbSNP: rs751877902
rs751877902
0.925 0.080 3 189958001 stop gained G/A snv 2.8E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs751877902
rs751877902
0.925 0.080 3 189958001 stop gained G/A snv 2.8E-05 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020