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: rs1531070
rs1531070
6 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs2474937
rs2474937
6 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs727504412
rs727504412
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
dbSNP: rs397516908
rs397516908
1 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999
dbSNP: rs1176869
rs1176869
1 14 40807221 intron variant C/G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs11895588
rs11895588
1 2 141204588 intron variant G/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1245314
rs1245314
1 14 27023434 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs146189703
rs146189703
2 1.000 0.080 4 175023930 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs17111230
rs17111230
1 14 40922047 intergenic variant G/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs1941023
rs1941023
1 11 60508428 downstream gene variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs2844660
rs2844660
1 6 30855983 regulatory region variant T/C snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs56409046
rs56409046
1 6 9320073 intergenic variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs66678247
rs66678247
1 3 114227412 intron variant T/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs75661265
rs75661265
1 8 59275232 regulatory region variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs870142
rs870142
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs374016704
rs374016704
3 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 0
dbSNP: rs876657934
rs876657934
1 5 173233212 splice region variant G/C snv 0.700 0
dbSNP: rs879253817
rs879253817
CIT
4 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 13 2001 2019
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.040 1.000 4 2006 2017
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2009 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2009 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2013
dbSNP: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs104894378
rs104894378
6 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999