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: rs3832406
rs3832406 		0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		0.010 1.000 1 2012 2012
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs7646
rs7646 		6 151101614 3 prime UTR variant A/G;T snv 0.22
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs766063498
rs766063498 		0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs766063498
rs766063498 		0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1998 1998