Disease: Congenital chromosomal disease ×
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: rs1470755915
rs1470755915 		0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2011 2011
dbSNP: rs927698341
rs927698341 		0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2011 2011