rs1554700718, HNRNPK

N. diseases: 59
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.
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
AU-KLINE SYNDROME
CUI: C4225274
Disease: AU-KLINE SYNDROME
13 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Class III malocclusion
CUI: C0399526
Disease: Class III malocclusion
19 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0