rs137854889, ZMPSTE24

N. diseases: 31
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
15 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
7 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Dermal translucency
CUI: C1836646
Disease: Dermal translucency
2 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Flexion contracture of proximal interphalangeal joint
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
7 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Fragile skin
CUI: C0241181
Disease: Fragile skin
5 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Lethal tight skin contracture syndrome (disorder)
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
10 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
8 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Narrow nail
CUI: C4021829
Disease: Narrow nail
1 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Pre-Eclampsia
CUI: C0032914
Disease: Pre-Eclampsia
14 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
11 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0