Source: CLINVAR ×
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: rs121913496
rs121913496
11 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.700 1.000 2 1986 1991
dbSNP: rs28933406
rs28933406
17 0.667 0.480 11 533875 missense variant G/C;T snv 0.700 0
dbSNP: rs104894365
rs104894365
3 0.827 0.320 12 25245345 missense variant C/T snv 0.800 1.000 8 2006 2014
dbSNP: rs104894366
rs104894366
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.800 1.000 3 2006 2014
dbSNP: rs104894359
rs104894359
4 0.851 0.200 12 25227346 missense variant C/G;T snv 0.800 1.000 0 2006 2011
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs104894364
rs104894364
2 0.925 0.160 12 25227351 missense variant G/A snv 0.800 1.000 0 2006 2011
dbSNP: rs104894367
rs104894367
1 1.000 0.160 12 25209907 missense variant A/C snv 0.700 0
dbSNP: rs1135401776
rs1135401776
2 1.000 0.160 12 25225624 missense variant T/C snv 0.700 0
dbSNP: rs193929331
rs193929331
2 0.925 0.160 12 25245372 missense variant T/C snv 0.800 1.000 0 2006 2011
dbSNP: rs727503110
rs727503110
3 0.882 0.160 12 25245320 missense variant T/A;C snv 0.800 0
dbSNP: rs730880471
rs730880471
4 0.851 0.280 12 25225709 missense variant C/T snv 0.700 0
dbSNP: rs397507510
rs397507510
5 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 1.000 28 2002 2016
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 14 2003 2009
dbSNP: rs121918454
rs121918454
16 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 11 2003 2016
dbSNP: rs397507512
rs397507512
2 0.925 0.160 12 112450391 missense variant T/C;G snv 0.700 1.000 10 2003 2016
dbSNP: rs397507549
rs397507549
6 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 9 2006 2015
dbSNP: rs397507531
rs397507531
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 8 2003 2009
dbSNP: rs397507506
rs397507506
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 1.000 7 2003 2015
dbSNP: rs397516810
rs397516810
2 0.925 0.160 12 112477652 missense variant T/G snv 0.700 1.000 7 2002 2014
dbSNP: rs121918470
rs121918470
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 6 2004 2012
dbSNP: rs727503380
rs727503380
2 0.925 0.160 12 112450386 missense variant A/T snv 0.700 1.000 6 2004 2013
dbSNP: rs121918468
rs121918468
3 0.882 0.160 12 112488444 missense variant G/A;T snv 0.700 1.000 5 2004 2013
dbSNP: rs121918459
rs121918459
46 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs397507518
rs397507518
2 0.925 0.160 12 112450508 missense variant G/A snv 0.700 1.000 2 2014 2014