SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
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: rs199979628
rs199979628 		0.925 0.160 7 84134868 missense variant G/A snv 5.3E-04 4.3E-04
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7804122
rs7804122 		0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7804122
rs7804122 		0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs797821
rs797821 		1.000 0.080 7 83961536 synonymous variant T/C snv 0.62 0.58
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2012 2012