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: rs113993967
rs113993967
5 0.851 0.240 3 189868597 missense variant G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs113993963
rs113993963
2 0.925 0.240 3 189789816 missense variant A/C snv 0.700 0
dbSNP: rs113993965
rs113993965
2 0.925 0.240 3 189808465 missense variant G/A;T snv 0.700 0
dbSNP: rs113993966
rs113993966
2 0.925 0.240 3 189868596 missense variant C/G snv 0.700 0
dbSNP: rs121908847
rs121908847
2 0.925 0.240 3 189868641 missense variant A/G snv 0.700 0
dbSNP: rs121908849
rs121908849
2 0.925 0.240 3 189866712 missense variant G/A snv 0.700 0
dbSNP: rs797044843
rs797044843
1 1.000 0.240 3 189894419 frameshift variant C/- delins 0.700 0
dbSNP: rs1173679499
rs1173679499
5 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121908835
rs121908835
3 0.882 0.240 3 189864379 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs150849660
rs150849660
1 1.000 0.240 12 106240156 missense variant C/T snv 2.4E-05 9.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs774804936
rs774804936
1 1.000 0.240 12 106240150 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006