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: rs104894961
rs104894961
1 1.000 0.120 X 137567449 missense variant G/C snv 0.800 1.000 6 1997 2014
dbSNP: rs104894962
rs104894962
1 1.000 0.120 X 137569054 missense variant A/G snv 0.800 1.000 6 1997 2014
dbSNP: rs1531070
rs1531070
6 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs2474937
rs2474937
6 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs122462165
rs122462165
1 1.000 0.120 X 137567659 missense variant C/T snv 0.800 0
dbSNP: rs122463168
rs122463168
1 1.000 0.120 X 137567454 missense variant T/G snv 0.800 0
dbSNP: rs104894963
rs104894963
1 1.000 0.120 X 137567340 missense variant C/G snv 1.5E-03 6.4E-03 0.700 1.000 6 1997 2014
dbSNP: rs373628598
rs373628598
1 1.000 0.120 X 137567017 missense variant C/G snv 2.8E-05 1.4E-04 0.700 1.000 3 2004 2014
dbSNP: rs104894960
rs104894960
1 1.000 0.120 X 137567436 stop gained C/T snv 0.700 0
dbSNP: rs1203069392
rs1203069392
1 1.000 0.120 X 137567446 stop gained C/A;T snv 5.5E-06 0.700 0
dbSNP: rs122462166
rs122462166
1 1.000 0.120 X 137567495 stop gained C/A snv 0.700 0
dbSNP: rs122463167
rs122463167
1 1.000 0.120 X 137567448 missense variant T/A snv 0.700 0
dbSNP: rs1556029841
rs1556029841
1 1.000 0.120 X 137567166 frameshift variant ACTT/- delins 0.700 0
dbSNP: rs1569345504
rs1569345504
1 1.000 0.120 X 137566819 stop gained C/A snv 0.700 0
dbSNP: rs1569345723
rs1569345723
1 1.000 0.120 X 137567225 frameshift variant -/G delins 0.700 0
dbSNP: rs1569345742
rs1569345742
1 1.000 0.120 X 137567282 frameshift variant CATACCGCCCAGTGGCC/- delins 0.700 0
dbSNP: rs886041111
rs886041111
1 1.000 0.120 X 137567455 missense variant G/C snv 0.700 0