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: rs1990760
rs1990760
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0935560
Disease: Multiple disability
Multiple disability
0.010 1.000 1 2020 2020