SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
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: rs590121
rs590121
1.000 0.040 11 75563105 5 prime UTR variant G/T snv 0.36
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.800 1.000 2 2013 2018
dbSNP: rs137853892
rs137853892
0.925 0.120 11 75566582 missense variant T/C snv
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X
0.800 1.000 1 2010 2010
dbSNP: rs606452
rs606452
1.000 0.040 11 75565133 intron variant A/C snv 0.78
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 5 2012 2019
dbSNP: rs634552
rs634552
11 75571007 intron variant T/G snv 0.77
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 3 2010 2019
dbSNP: rs606452
rs606452
1.000 0.040 11 75565133 intron variant A/C snv 0.78
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs606452
rs606452
1.000 0.040 11 75565133 intron variant A/C snv 0.78
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2012 2012
dbSNP: rs606452
rs606452
1.000 0.040 11 75565133 intron variant A/C snv 0.78
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
0.700 1.000 1 2017 2017
dbSNP: rs634552
rs634552
11 75571007 intron variant T/G snv 0.77
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2010 2010
dbSNP: rs645935
rs645935
11 75568245 5 prime UTR variant T/C snv 0.82
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs659418
rs659418
1.000 0.040 11 75573289 downstream gene variant T/G snv 0.19
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2017 2017
dbSNP: rs659418
rs659418
1.000 0.040 11 75573289 downstream gene variant T/G snv 0.19
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565244847
rs1565244847
1.000 11 75572058 frameshift variant -/T delins
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X
0.700 0
dbSNP: rs886039819
rs886039819
1.000 11 75568818 missense variant T/C snv
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X
0.700 0
dbSNP: rs137853892
rs137853892
0.925 0.120 11 75566582 missense variant T/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2010 2010