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.
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
Absence of rib
CUI: C0426816
Disease: Absence of rib
1 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
amniotic fluid meconium stained
CUI: C0426209
Disease: amniotic fluid meconium stained
4 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Anterior creases of earlobe
CUI: C1851897
Disease: Anterior creases of earlobe
2 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Apneic episodes in infancy
CUI: C3807980
Disease: Apneic episodes in infancy
2 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
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
Bilateral fetal pyelectasis
CUI: C4023523
Disease: Bilateral fetal pyelectasis
2 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
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
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
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Broad uvula
CUI: C3693299
Disease: Broad uvula
2 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
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
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
7 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Congenital dermal melanocytosis
CUI: C4020699
Disease: Congenital dermal melanocytosis
3 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
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
Depressed nasal tip
CUI: C1859717
Disease: Depressed nasal tip
3 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
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
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
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