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: rs1556404575
rs1556404575
1 1.000 0.120 X 123886049 frameshift variant ACAG/- delins 0.700 1.000 2 2011 2013
dbSNP: rs1556404684
rs1556404684
1 1.000 0.120 X 123886326 stop gained C/T snv 0.700 1.000 2 2011 2014
dbSNP: rs1569477871
rs1569477871
1 1.000 0.120 X 123886228 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs104894764
rs104894764
1 1.000 0.120 X 123886014 stop gained G/T snv 0.700 0
dbSNP: rs111978474
rs111978474
1 1.000 0.120 X 123886374 stop gained C/T snv 0.700 0
dbSNP: rs1556404455
rs1556404455
1 1.000 0.120 X 123885767 frameshift variant T/- delins 0.700 0
dbSNP: rs1556404534
rs1556404534
1 1.000 0.120 X 123885954 frameshift variant C/- del 0.700 0
dbSNP: rs1556404673
rs1556404673
1 1.000 0.120 X 123886312 frameshift variant G/- delins 0.700 0
dbSNP: rs1556404697
rs1556404697
1 1.000 0.120 X 123886331 frameshift variant -/T delins 0.700 0
dbSNP: rs1556406033
rs1556406033
1 1.000 0.120 X 123891281 frameshift variant AA/- del 0.700 0
dbSNP: rs1556408009
rs1556408009
3 0.925 0.200 X 123900534 stop gained C/T snv 0.700 0
dbSNP: rs199683465
rs199683465
1 1.000 0.120 X 123891305 splice donor variant GAG/- delins 2.5E-04 1.3E-04 0.700 0
dbSNP: rs387907301
rs387907301
1 1.000 0.120 X 123886270 missense variant G/A snv 5.5E-06 0.700 0