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.
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
Postaxial polysyndactyly of foot
CUI: C4021824
Disease: Postaxial polysyndactyly of foot
1 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Recurrent ear infections
CUI: C0743360
Disease: Recurrent ear infections
1 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
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
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
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
Protuberant abdomen
CUI: C1854928
Disease: Protuberant abdomen
2 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
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
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
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
Hyperpigmented nevi
CUI: C0746889
Disease: Hyperpigmented nevi
3 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Proximal placement of thumb
CUI: C1865572
Disease: Proximal placement of thumb
3 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
Muscular ventricular septum defect
CUI: C0685707
Disease: Muscular ventricular septum defect
4 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Oval face
CUI: C1849025
Disease: Oval face
4 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
Protruding ear
CUI: C1855285
Disease: Protruding ear
6 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
Inversion of nipple (disorder)
CUI: C0269269
Disease: Inversion of nipple (disorder)
7 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
Prominent fingertip pads
CUI: C1835807
Disease: Prominent fingertip pads
8 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
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0