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: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2018
dbSNP: rs63749884
rs63749884
5 0.851 0.160 1 226888979 missense variant G/A snv 0.040 1.000 4 2000 2012
dbSNP: rs1215971988
rs1215971988
1 1.000 0.080 1 226885618 missense variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs140501902
rs140501902
6 0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs1482790603
rs1482790603
1 1.000 0.080 1 226891284 missense variant T/C snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs202178897
rs202178897
1 1.000 0.080 1 226885596 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs28936379
rs28936379
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs28936380
rs28936380
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs58973334
rs58973334
3 0.882 0.080 1 226883748 missense variant G/A snv 8.6E-03 1.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs778936527
rs778936527
2 0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs1393704451
rs1393704451
1 1.000 0.080 2 109129746 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1712572
rs1712572
1 1.000 0.080 3 106898231 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs139155954
rs139155954
1 1.000 0.080 4 185662115 missense variant C/G;T snv 6.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs773029808
rs773029808
1 1.000 0.080 4 185626897 missense variant C/G snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs958576773
rs958576773
1 1.000 0.080 6 33662534 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1015909000
rs1015909000
1 1.000 0.080 9 14146790 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2001 2001
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.100 1.000 14 1996 2019
dbSNP: rs63750526
rs63750526
10 0.776 0.160 14 73192832 missense variant C/A snv 0.100 1.000 10 1997 2019
dbSNP: rs63750306
rs63750306
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.090 1.000 9 1997 2013
dbSNP: rs17125721
rs17125721
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.050 1.000 5 2000 2017
dbSNP: rs63749805
rs63749805
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.050 1.000 5 1998 2018
dbSNP: rs63750001
rs63750001
4 0.851 0.080 14 73219188 missense variant C/T snv 0.020 1.000 2 2015 2016