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: rs794729201
rs794729201
ELN
1 1.000 0.080 7 74068685 frameshift variant C/- delins 0.700 1.000 3 1997 2011
dbSNP: rs768323248
rs768323248
2 0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1365573219
rs1365573219
1 1.000 0.080 10 95626722 missense variant G/C snv 7.0E-06 0.010 1.000 1 2017 2017