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: rs398124204
rs398124204
2 0.925 0.160 14 28767733 frameshift variant G/-;GG delins 0.700 1.000 6 2010 2017
dbSNP: rs1555321380
rs1555321380
1 1.000 0.120 14 28768223 frameshift variant C/- delins 0.700 1.000 2 2008 2016
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: rs1452295073
rs1452295073
1 1.000 0.120 14 28767780 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1555321294
rs1555321294
1 1.000 0.120 14 28767779 frameshift variant A/- del 0.700 0
dbSNP: rs1566445169
rs1566445169
1 1.000 0.120 14 28767678 frameshift variant AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- delins 0.700 0
dbSNP: rs587783629
rs587783629
1 1.000 0.120 14 28767411 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs587783631
rs587783631
1 1.000 0.120 14 28767447 frameshift variant ACCCGCCGCC/- delins 0.700 0
dbSNP: rs587783635
rs587783635
1 1.000 0.120 14 28767539 frameshift variant GGGGCGCCCCGGCCGC/- delins 0.700 0
dbSNP: rs587783636
rs587783636
1 1.000 0.120 14 28767573 frameshift variant C/- delins 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: 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: rs267606828
rs267606828
1 1.000 0.120 14 28767922 missense variant T/C snv 0.800 1.000 3 2010 2016
dbSNP: rs786205009
rs786205009
1 1.000 0.120 14 28768009 missense variant C/T snv 0.800 1.000 3 2011 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
dbSNP: rs1057516138
rs1057516138
1 1.000 0.120 14 28767833 missense variant G/C;T snv 0.700 0
dbSNP: rs1064797186
rs1064797186
1 1.000 0.120 14 28767964 missense variant A/C snv 0.700 0
dbSNP: rs1555321337
rs1555321337
1 1.000 0.120 14 28767992 missense variant G/A snv 0.700 0
dbSNP: rs1555321361
rs1555321361
1 1.000 0.120 14 28768103 missense variant G/C snv 0.700 0
dbSNP: rs1566445489
rs1566445489
1 1.000 0.120 14 28767982 missense variant C/T snv 0.700 0
dbSNP: rs1566445533
rs1566445533
1 1.000 0.120 14 28768042 missense variant T/A snv 0.700 0
dbSNP: rs587783640
rs587783640
1 1.000 0.120 14 28768034 missense variant G/T snv 0.700 0