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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Dental caries
CUI: C0011334
Disease: Dental caries
126 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 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
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
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
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
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
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
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 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
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
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
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 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
Macrotia
CUI: C0152421
Disease: Macrotia
18 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
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