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: rs786204998
rs786204998
1 1.000 0.120 14 28767923 missense variant TC/CT mnv 0.700 0
dbSNP: rs786204999
rs786204999
1 1.000 0.120 14 28768527 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs786205003
rs786205003
1 1.000 0.120 14 28767784 frameshift variant GG/C;T delins 0.700 0
dbSNP: rs786205004
rs786205004
1 1.000 0.120 14 28767830 frameshift variant -/C delins 0.700 0
dbSNP: rs786205005
rs786205005
1 1.000 0.120 14 28767856 missense variant G/A snv 0.700 0
dbSNP: rs786205007
rs786205007
1 1.000 0.120 14 28767968 missense variant G/A;T snv 0.700 0
dbSNP: rs786205008
rs786205008
1 1.000 0.120 14 28767979 missense variant T/C snv 0.700 0
dbSNP: rs786205010
rs786205010
1 1.000 0.120 14 28768066 frameshift variant ACGTG/- delins 0.700 0
dbSNP: rs786205011
rs786205011
1 1.000 0.120 14 28768248 frameshift variant C/- del 0.700 0
dbSNP: rs786205486
rs786205486
1 1.000 0.120 14 28767973 missense variant A/G;T snv 0.700 0
dbSNP: rs796052469
rs796052469
1 1.000 0.120 14 28768091 missense variant G/A snv 0.700 0
dbSNP: rs869312700
rs869312700
3 0.925 0.200 14 28768100 missense variant G/A snv 0.700 0
dbSNP: rs879255530
rs879255530
2 0.925 0.160 14 28767832 missense variant A/T snv 0.700 0
dbSNP: rs1555321380
rs1555321380
1 1.000 0.120 14 28768223 frameshift variant C/- delins 0.700 1.000 2 2008 2016
dbSNP: rs398124204
rs398124204
2 0.925 0.160 14 28767733 frameshift variant G/-;GG delins 0.700 1.000 6 2010 2017
dbSNP: rs267606828
rs267606828
1 1.000 0.120 14 28767922 missense variant T/C snv 0.800 1.000 3 2010 2016
dbSNP: rs764343290
rs764343290
1 1.000 0.120 14 28768302 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2010 2010
dbSNP: rs786205009
rs786205009
1 1.000 0.120 14 28768009 missense variant C/T snv 0.800 1.000 3 2011 2014
dbSNP: rs786205001
rs786205001
1 1.000 0.120 14 28767529 frameshift variant C/-;CC delins 0.700 1.000 2 2012 2016
dbSNP: rs1555321206
rs1555321206
1 1.000 0.120 14 28767449 frameshift variant -/GCCGCCCGCC delins 0.700 1.000 1 2014 2014
dbSNP: rs767961672
rs767961672
4 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016