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.
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
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
Shallow orbits
CUI: C1865244
Disease: Shallow orbits
4 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
Supernumerary mesiodens tooth
CUI: C0266030
Disease: Supernumerary mesiodens tooth
2 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Underdeveloped inferior crus of antihelix
CUI: C4021194
Disease: Underdeveloped inferior crus of antihelix
1 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Underfolded helix
CUI: C1849735
Disease: Underfolded helix
2 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