Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111344408
rs111344408
1 1.000 0.040 1 201363407 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs397516465
rs397516465
1 1.000 0.040 1 201364342 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs727504488
rs727504488
1 1.000 0.040 1 201361305 missense variant C/T snv 0.700 0