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: rs104894424
rs104894424
1 1.000 0.160 13 40807379 missense variant G/A snv 8.0E-06 2.1E-05 0.800 1.000 7 1999 2009
dbSNP: rs104894430
rs104894430
1 1.000 0.160 13 40799080 missense variant G/A snv 2.0E-05 0.800 1.000 7 1999 2009
dbSNP: rs104894431
rs104894431
1 1.000 0.160 13 40809585 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.800 1.000 7 1999 2009
dbSNP: rs121908533
rs121908533
1 1.000 0.160 13 40799111 missense variant T/C;G snv 4.0E-06 0.800 1.000 7 1999 2009
dbSNP: rs121908534
rs121908534
1 1.000 0.160 13 40799213 missense variant T/A snv 0.800 1.000 7 1999 2009
dbSNP: rs121908535
rs121908535
1 1.000 0.160 13 40809576 missense variant C/T snv 6.8E-05 3.5E-05 0.800 1.000 7 1999 2009
dbSNP: rs104894429
rs104894429
2 1.000 0.160 13 40807376 stop gained C/T snv 6.8E-05 4.9E-05 0.730 1.000 3 2000 2015
dbSNP: rs1208994024
rs1208994024
1 1.000 0.160 13 40799081 missense variant G/A snv 1.4E-05 0.710 1.000 7 1999 2009
dbSNP: rs202247807
rs202247807
1 1.000 0.160 13 40809584 stop gained C/T snv 8.0E-06 6.3E-05 0.710 1.000 4 2001 2012
dbSNP: rs121908536
rs121908536
1 1.000 0.160 13 40799096 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2006 2006
dbSNP: rs1417167600
rs1417167600
1 1.000 0.160 13 40808461 missense variant G/A snv 4.0E-06 0.700 1.000 7 1999 2009
dbSNP: rs202247803
rs202247803
1 1.000 0.160 13 40807394 inframe deletion TTC/- delins 2.1E-05 0.700 1.000 5 1999 2013
dbSNP: rs1064793683
rs1064793683
1 1.000 0.160 13 40799209 missense variant GC/TT mnv 0.700 0
dbSNP: rs141028076
rs141028076
1 1.000 0.160 13 40807405 missense variant C/G;T snv 8.0E-06; 8.5E-04 0.700 0
dbSNP: rs1566123619
rs1566123619
1 1.000 0.160 13 40805249 frameshift variant G/- del 0.700 0
dbSNP: rs199894905
rs199894905
1 1.000 0.160 13 40805140 missense variant G/A;T snv 7.2E-05 0.700 0
dbSNP: rs202247804
rs202247804
1 1.000 0.160 13 40807410 missense variant G/A snv 0.700 0
dbSNP: rs202247805
rs202247805
1 1.000 0.160 13 40808473 missense variant G/A snv 0.700 0
dbSNP: rs202247806
rs202247806
3 1.000 0.160 13 40793270 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs202247808
rs202247808
1 1.000 0.160 13 40809579 missense variant T/A snv 0.700 0
dbSNP: rs202247809
rs202247809
1 1.000 0.160 13 40809608 missense variant C/T snv 4.0E-06 0.700 0