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: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs61748421
rs61748421
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.030 1.000 3 2002 2005
dbSNP: rs267608383
rs267608383
2 1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 0.010 1.000 1 2009 2009
dbSNP: rs267608402
rs267608402
2 1.000 0.200 X 154030650 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs28934904
rs28934904
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs61748392
rs61748392
3 0.925 0.200 X 154031418 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs61748420
rs61748420
5 0.851 0.200 X 154031329 missense variant G/A;T snv 0.010 1.000 1 2001 2001
dbSNP: rs61749735
rs61749735
3 0.925 0.200 X 154031162 synonymous variant G/A;C snv 5.4E-06; 3.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs61753016
rs61753016
2 1.000 0.200 X 154030614 missense variant G/A snv 6.8E-05 3.9E-05 0.010 1.000 1 2009 2009