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.
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
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
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 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
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
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
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
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
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