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: rs2243191
rs2243191
2 1.000 0.040 1 206842612 missense variant T/C;G snv 0.71; 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs396716
rs396716
1 1 161544806 missense variant A/G snv 7.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs10178992
rs10178992
4 2 233749231 intron variant T/A snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10179091
rs10179091
4 2 233749337 intron variant T/C snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs10929301
rs10929301
4 2 233755003 splice region variant C/G;T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs10929302
rs10929302
4 2 233757136 intron variant G/A snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs11568350
rs11568350
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs11673726
rs11673726
4 2 233755414 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11695484
rs11695484
3 2 233745803 intron variant A/G snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs11888459
rs11888459
4 2 233747994 non coding transcript exon variant T/C snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs17862875
rs17862875
4 2 233740656 intron variant G/A snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs17864701
rs17864701
3 2 233744071 intron variant C/T snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs201565523
rs201565523
3 0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs2885296
rs2885296
2 2 233750415 intron variant A/C snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs34352510
rs34352510
2 2 233741916 non coding transcript exon variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs3771341
rs3771341
3 2 233764593 intron variant G/A;T snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs4148324
rs4148324
4 2 233764076 intron variant T/A;G snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs4148325
rs4148325
11 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs6714634
rs6714634
4 2 233756119 non coding transcript exon variant T/C snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs6742078
rs6742078
13 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs6747843
rs6747843
3 2 233755708 non coding transcript exon variant G/A snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs756207760
rs756207760
2 2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999