rs1554700718, HNRNPK

N. diseases: 59
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
0.700 GeneticVariation CLINVAR
Proximal placement of thumb
CUI: C1865572
Disease: Proximal placement of thumb
0.700 GeneticVariation CLINVAR
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
0.700 GeneticVariation CLINVAR
Muscular ventricular septum defect
CUI: C0685707
Disease: Muscular ventricular septum defect
0.700 GeneticVariation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 GeneticVariation CLINVAR
Macrotia
CUI: C0152421
Disease: Macrotia
0.700 GeneticVariation CLINVAR
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
0.700 GeneticVariation CLINVAR
Congenital dermal melanocytosis
CUI: C4020699
Disease: Congenital dermal melanocytosis
0.700 GeneticVariation CLINVAR
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
0.700 GeneticVariation CLINVAR
Shallow orbits
CUI: C1865244
Disease: Shallow orbits
0.700 GeneticVariation CLINVAR
Absence of rib
CUI: C0426816
Disease: Absence of rib
0.700 GeneticVariation CLINVAR
amniotic fluid meconium stained
CUI: C0426209
Disease: amniotic fluid meconium stained
0.700 GeneticVariation CLINVAR
Protuberant abdomen
CUI: C1854928
Disease: Protuberant abdomen
0.700 GeneticVariation CLINVAR
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 GeneticVariation CLINVAR
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
0.700 GeneticVariation CLINVAR
Underfolded helix
CUI: C1849735
Disease: Underfolded helix
0.700 GeneticVariation CLINVAR
Broad uvula
CUI: C3693299
Disease: Broad uvula
0.700 GeneticVariation CLINVAR
Dental caries
CUI: C0011334
Disease: Dental caries
0.700 GeneticVariation CLINVAR
Apneic episodes in infancy
CUI: C3807980
Disease: Apneic episodes in infancy
0.700 GeneticVariation CLINVAR
AU-KLINE SYNDROME
CUI: C4225274
Disease: AU-KLINE SYNDROME
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 GeneticVariation CLINVAR
Class III malocclusion
CUI: C0399526
Disease: Class III malocclusion
0.700 GeneticVariation CLINVAR
Supernumerary mesiodens tooth
CUI: C0266030
Disease: Supernumerary mesiodens tooth
0.700 GeneticVariation CLINVAR
Depressed nasal tip
CUI: C1859717
Disease: Depressed nasal tip
0.700 GeneticVariation CLINVAR