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: rs1800566
rs1800566
41 0.605 0.571 16 69711242 missense variant G/A snp 0.25 0.21 0.010 1.000 1 1999 1999
dbSNP: rs28936379
rs28936379
9 0.821 0.107 1 226888977 missense variant A/C,G,T snp 4.0E-06 3.2E-05 0.010 < 0.001 1 1999 1999
dbSNP: rs532358159
rs532358159
30 0.634 0.536 16 69711143 missense variant G/A snp 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs137852784
rs137852784
3 0.923 0.071 13 27920314 missense variant A/T snp 1.5E-05 3.2E-05 0.020 1.000 2 1999 2000
dbSNP: rs1063856
rs1063856
VWF
7 0.878 0.179 12 6044368 missense variant T/C,G snp 0.31 0.40 0.010 1.000 1 2000 2000
dbSNP: rs11575937
rs11575937
17 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2000 2000
dbSNP: rs1169305
rs1169305
2 1.000 0.036 12 120999579 missense variant A/G snp 1.00 0.99 0.010 < 0.001 1 2000 2000
dbSNP: rs137852785
rs137852785
3 0.923 0.071 13 27920190 missense variant T/C snp 1.1E-04 6.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs142318174
rs142318174
2 1.000 0.036 12 120978923 missense variant G/C snp 2.0E-04 8.3E-04 0.010 < 0.001 1 2000 2000
dbSNP: rs143517122
rs143517122
2 1.000 0.036 13 27924267 missense variant G/A,T snp 2.1E-04; 4.2E-06 3.8E-04 0.010 1.000 1 2000 2000
dbSNP: rs1800571
rs1800571
6 0.846 0.107 3 12381349 missense variant C/A snp 3.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs587778393
rs587778393
2 1.000 0.036 12 120978923 missense variant GC/CT multinucleotide-polymorphism 0.010 < 0.001 1 2000 2000
dbSNP: rs779271027
rs779271027
2 1.000 0.036 20 44413723 missense variant A/C,G snp 4.0E-06; 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs193922479
rs193922479
3 0.923 0.071 20 44424116 missense variant C/T snp 8.0E-06 0.020 1.000 2 2001 2001
dbSNP: rs1042714
rs1042714
38 0.634 0.464 5 148826910 stop gained G/C,T snp 0.68 0.67 0.010 < 0.001 1 2001 2001
dbSNP: rs1800561
rs1800561
5 0.846 0.214 4 15824935 missense variant C/A,T snp 8.0E-06; 4.4E-04 1.6E-04 0.010 < 0.001 1 2001 2001
dbSNP: rs199644078
rs199644078
3 0.923 0.071 13 27924565 missense variant C/A,T snp 6.0E-03; 1.8E-05 1.0E-02 0.010 1.000 1 2001 2001
dbSNP: rs199976415
rs199976415
2 1.000 0.036 1 26911982 missense variant G/A snp 6.0E-05 6.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs2270565
rs2270565
3 0.923 0.071 4 140562317 missense variant T/A snp 8.9E-02 6.4E-02 0.010 1.000 1 2001 2001
dbSNP: rs7607759
rs7607759
3 0.923 0.071 2 240596709 missense variant A/G snp 0.14 0.13 0.010 1.000 1 2001 2001
dbSNP: rs1801483
rs1801483
7 0.846 0.107 17 81809839 missense variant G/A snp 7.4E-03 3.9E-03 0.020 1.000 2 1997 2002
dbSNP: rs35153102
rs35153102
10 0.756 0.107 16 84873122 missense variant G/A snp 0.020 1.000 2 2002 2002
dbSNP: rs854560
rs854560
51 0.599 0.500 7 95316772 missense variant A/C,G,N,T snp 0.29 0.29 0.020 < 0.001 2 2002 2002
dbSNP: rs104894014
rs104894014
GCK
3 0.923 0.071 7 44145167 missense variant G/A snp 0.010 1.000 1 2002 2002
dbSNP: rs757431022
rs757431022
3 0.923 0.107 10 95432529 missense variant G/A snp 1.4E-04 6.4E-05 0.010 1.000 1 2002 2002