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: rs373893038
rs373893038
1 5 14387508 missense variant C/T snv 8.0E-06 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs121908224
rs121908224
2 1.000 0.080 19 13235262 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1318256630
rs1318256630
2 11 66708251 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs397514749
rs397514749
2 1.000 0.080 11 66707731 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs375244209
rs375244209
2 1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05 0.700 0
dbSNP: rs750959420
rs750959420
2 1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 0.700 0
dbSNP: rs774214806
rs774214806
2 1.000 6 146159536 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs79267946
rs79267946
CA8
2 1.000 0.160 8 60232322 stop gained T/A;C snv 0.700 0
dbSNP: rs771578775
rs771578775
3 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.020 0.500 2 2010 2012
dbSNP: rs118204095
rs118204095
3 1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs118204096
rs118204096
3 1.000 0.160 11 119091432 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs119456965
rs119456965
3 1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1208917022
rs1208917022
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121918518
rs121918518
3 1.000 0.080 19 53889655 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1320457487
rs1320457487
3 1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1424215334
rs1424215334
3 1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs148156462
rs148156462
3 0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs200248046
rs200248046
3 1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs267607044
rs267607044
3 1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs587777004
rs587777004
3 1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs770684782
rs770684782
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs80356713
rs80356713
3 0.925 0.120 X 75070499 missense variant C/A;G snv 0.010 1.000 1 2001 2001
dbSNP: rs879253798
rs879253798
3 1.000 0.080 16 89524099 frameshift variant TC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518796
rs1057518796
3 1.000 6 33443751 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518936
rs1057518936
3 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0