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: rs121913016
rs121913016
4 0.846 0.143 19 45357368 missense variant G/C snp 1.2E-03 3.5E-04 0.820 1.000 2 1995 1996
dbSNP: rs41556519
rs41556519
5 0.846 0.143 19 45352352 missense variant G/A snp 6.0E-05 6.4E-05 0.810 1.000 5 1993 2012
dbSNP: rs121913024
rs121913024
4 0.846 0.357 19 45352802 missense variant G/A snp 5.6E-05 6.4E-05 0.800 2 2001 2001
dbSNP: rs758439420
rs758439420
1 1.000 0.143 19 45352351 missense variant C/A,T snp 8.0E-06; 1.6E-05 0.800 2 1993 2012
dbSNP: rs121913019
rs121913019
1 1.000 0.143 19 45354774 missense variant T/C,G snp 4.0E-06 0.800 1 1997 1997
dbSNP: rs121913025
rs121913025
1 1.000 0.143 19 45357295 missense variant A/G snp 0.800 1 2002 2002
dbSNP: rs121913020
rs121913020
5 0.821 0.143 19 45368655 missense variant C/T snp 2.0E-05 3.2E-05 0.800 0
dbSNP: rs376556895
rs376556895
6 0.801 0.357 19 45352801 missense variant C/G,T snp 1.5E-04; 8.0E-06 9.6E-05 0.710 1.000 1 1996 1996
dbSNP: rs752510317
rs752510317
1 1.000 0.143 19 45352556 missense variant G/A snp 1.2E-05 0.710 1.000 1 2016 2016
dbSNP: rs121913017
rs121913017
1 1.000 0.143 19 45352223 stop gained G/A,C snp 4.0E-06 0.700 1 1995 1995
dbSNP: rs762309206
rs762309206
2 0.923 0.143 19 45364833 splice donor variant CCTCA/C in-del 0.700 1 2015 2015
dbSNP: rs121913023
rs121913023
4 0.846 0.357 19 45352511 missense variant C/T snp 2.0E-05 0.700 0
dbSNP: rs140522180
rs140522180
1 1.000 0.143 19 45353112 missense variant C/A,T snp 2.0E-05; 1.9E-04 3.2E-05; 1.3E-04 0.700 0
dbSNP: rs753641926
rs753641926
1 1.000 0.143 19 45353113 missense variant G/A,T snp 4.4E-05; 4.0E-06 3.2E-05 0.700 0
dbSNP: rs771824813
rs771824813
1 1.000 0.143 19 45353109 missense variant C/T snp 4.0E-06 0.700 0
dbSNP: rs772572683
rs772572683
1 1.000 0.143 19 45355676 missense variant C/T snp 4.0E-06 0.700 0
dbSNP: rs774768228
rs774768228
2 0.923 0.143 19 45352505 splice donor variant C/G snp 4.0E-06 0.700 0
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.100 1.000 15 2003 2016
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.100 1.000 14 2004 2013
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.080 1.000 8 2003 2014
dbSNP: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.070 1.000 7 2004 2015
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.050 1.000 5 2007 2012
dbSNP: rs25489
rs25489
48 0.587 0.571 19 43552260 stop lost C/G,T snp 8.5E-06; 7.1E-02 3.2E-05; 5.5E-02 0.040 1.000 4 2006 2016
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.020 0.500 2 2009 2013
dbSNP: rs1130409
rs1130409
45 0.590 0.500 14 20456995 missense variant T/A,C,G snp 4.0E-06; 4.0E-06; 0.42 0.44 0.020 0.500 2 2012 2015