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: rs1057519828
rs1057519828
1 7 55143387 missense variant G/A snv 0.700 1.000 1 2006 2006
dbSNP: rs1057519829
rs1057519829
1 7 55154050 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs63749833
rs63749833
1 3 36996639 missense variant G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs754820004
rs754820004
1 2 224557736 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762584624
rs762584624
1 12 110919162 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs774265827
rs774265827
1 6 43780773 missense variant G/A;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs777169839
rs777169839
2 4 23828453 missense variant T/C;G snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs587780076
rs587780076
2 17 7673743 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs139236063
rs139236063
3 0.925 0.080 7 55165350 missense variant G/C;T snv 0.700 1.000 2 2006 2016
dbSNP: rs1057519887
rs1057519887
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1476157710
rs1476157710
3 0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs1802710
rs1802710
3 14 100734308 synonymous variant T/A;C snv 0.63 0.010 1.000 1 2004 2004
dbSNP: rs397516813
rs397516813
3 0.925 0.160 3 12599717 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs766727892
rs766727892
3 0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs769696078
rs769696078
3 0.925 0.040 7 55154128 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs867657798
rs867657798
3 0.925 0.040 18 55631366 missense variant G/A;C snv 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs868162712
rs868162712
3 0.925 0.040 18 55279598 missense variant G/A snv 0.010 < 0.001 1 2002 2002
dbSNP: rs113994088
rs113994088
ALK
4 0.925 0.080 2 29222584 missense variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs113994089
rs113994089
ALK
4 0.925 0.120 2 29220776 missense variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1200941109
rs1200941109
4 0.882 0.040 2 15940679 frameshift variant C/-;CC delins 0.010 1.000 1 2013 2013
dbSNP: rs757066045
rs757066045
4 0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs80359183
rs80359183
4 0.882 0.120 13 32380096 stop gained T/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs1057519757
rs1057519757
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519841
rs1057519841
5 0.925 0.120 5 68295269 missense variant A/G snv 0.700 1.000 1 2016 2016