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.
Diverticulosis of the duodenum
CUI: C0341266
Disease: Diverticulosis of the duodenum
1 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Birth length greater than 97th percentile
CUI: C1839271
Disease: Birth length greater than 97th percentile
2 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Head movements abnormal
CUI: C0476217
Disease: Head movements abnormal
2 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Intestinal Volvulus
CUI: C0042961
Disease: Intestinal Volvulus
2 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
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
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
Congenital malrotation of intestine
CUI: C0221210
Disease: Congenital malrotation of intestine
5 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Involuntary Movements
CUI: C0427086
Disease: Involuntary Movements
5 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
Abdomen distended
CUI: C0000731
Disease: Abdomen distended
6 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Appendicular hypotonia
CUI: C4022919
Disease: Appendicular hypotonia
8 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 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
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
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
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 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
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
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 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
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
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0