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: rs80338794
rs80338794
3 0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-04 0.730 0.667 3 1999 2005
dbSNP: rs794729653
rs794729653
2 0.925 0.120 6 73641807 frameshift variant T/- delins 0.700 1.000 2 1999 2005
dbSNP: rs119491109
rs119491109
1 1.000 0.120 6 73638477 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs119491110
rs119491110
1 1.000 0.120 6 73615425 missense variant G/A;C snv 0.700 0
dbSNP: rs201284672
rs201284672
2 0.925 0.120 6 73621864 stop gained A/C snv 8.4E-05 1.3E-04 0.700 0
dbSNP: rs80338795
rs80338795
3 0.882 0.120 6 73641810 stop gained T/A;C snv 3.2E-05 0.700 0