Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554700718
rs1554700718
CUI: C2673410
Disease: Small midface
Small midface
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C1849025
Disease: Oval face
Oval face
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0266030
Disease: Supernumerary mesiodens tooth
Supernumerary mesiodens tooth
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0011334
Disease: Dental caries
Dental caries
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C4021824
Disease: Postaxial polysyndactyly of foot
Postaxial polysyndactyly of foot
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder)
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C1855285
Disease: Protruding ear
Protruding ear
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0426848
Disease: Sacral dimple
Sacral dimple
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C1851897
Disease: Anterior creases of earlobe
Anterior creases of earlobe
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0239234
Disease: Low set ears
Low set ears
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C1861324
Disease: Short philtrum
Short philtrum
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
C 0.700 GeneticVariation CLINVAR