Source: ALL
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: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs551423795
rs551423795
4 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs756877019
rs756877019
3 1.000 9 110800760 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs11214105
rs11214105
2 1.000 0.120 11 112166930 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2011 2012
dbSNP: rs4251961
rs4251961
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2008 2008
dbSNP: rs9658498
rs9658498
1 12 117230720 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2293052
rs2293052
2 1.000 0.040 12 117277815 intron variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs139194636
rs139194636
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 0.700 0
dbSNP: rs757600616
rs757600616
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1042718
rs1042718
3 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs199682734
rs199682734
1 6 154118718 synonymous variant C/T snv 8.1E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs4129267
rs4129267
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs869312697
rs869312697
8 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
dbSNP: rs387907170
rs387907170
3 0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2794521
rs2794521
CRP
15 0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs9332377
rs9332377
5 0.882 0.120 22 19968169 intron variant C/A;T snv 0.010 1.000 1 2017 2017