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.
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
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 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
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
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 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
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
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
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 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
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
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
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
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
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 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
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
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
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