ISYNA1, inositol-3-phosphate synthase 1, 51477

N. diseases: 168; N. variants: 5
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: rs1479488159
rs1479488159 		1.000 0.080 19 18435586 synonymous variant G/A snv 4.1E-06 7.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2303697
rs2303697 		1.000 0.080 19 18435868 synonymous variant T/C snv 0.38 0.47
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs369738821
rs369738821 		1.000 0.040 19 18436982 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs779370907
rs779370907 		1.000 0.040 19 18436405 synonymous variant C/T snv 6.0E-05 1.4E-05
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs780972489
rs780972489 		1.000 0.040 19 18436831 synonymous variant C/T snv 8.9E-06 7.0E-06
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007