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.
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 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
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 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
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
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
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 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
Macrotia
CUI: C0152421
Disease: Macrotia
18 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
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
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 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
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
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
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
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
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
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 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
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
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
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
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
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