rs200661329, PIGQ

N. diseases: 48
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.
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
12 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Protrusion of tongue
CUI: C0241442
Disease: Protrusion of tongue
4 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Short columella
CUI: C1857479
Disease: Short columella
5 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Small penis
CUI: C0240701
Disease: Small penis
2 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Sparse hair
CUI: C1837770
Disease: Sparse hair
9 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Tongue thrusting
CUI: C1829460
Disease: Tongue thrusting
2 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0