SEMA3D, semaphorin 3D, 223117

N. diseases: 44; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7800072
rs7800072 		7 84999673 missense variant T/G snv 0.28 0.32
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2018 2019
dbSNP: rs1057519374
rs1057519374 		1.000 0.120 7 85012812 missense variant G/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11771699
rs11771699 		7 85033916 intron variant A/G snv 0.22
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs4727099
rs4727099 		7 85171164 intron variant C/T snv 0.64
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs141893504
rs141893504 		1.000 0.080 7 85022533 missense variant G/T snv 4.0E-03 4.2E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs993312
rs993312 		1.000 0.080 7 85118528 intron variant C/A snv 0.22
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015