Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1302482009
rs1302482009
SCRIB
1.000 8 143810730 missense variant G/A snv 2.8E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs782428100
rs782428100
SCRIB
1.000 8 143792044 missense variant C/T snv 5.2E-05 9.1E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012