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: rs2131925
rs2131925
6 1 62560271 intron variant G/T snv 0.57 0.800 1.000 5 2010 2019
dbSNP: rs1748195
rs1748195
8 0.851 0.120 1 62583922 intron variant C/G;T snv 0.800 1.000 4 2008 2019
dbSNP: rs10889353
rs10889353
5 1 62652525 intron variant A/C;T snv 0.800 1.000 3 2009 2019
dbSNP: rs1167998
rs1167998
6 1 62465961 intron variant C/A snv 0.57 0.800 1.000 3 2009 2019
dbSNP: rs1168013
rs1168013
6 1.000 0.120 1 62531167 intron variant C/G;T snv 0.800 1.000 2 2010 2019
dbSNP: rs9988450
rs9988450
3 1 62458777 non coding transcript exon variant C/T snv 0.39 0.700 1.000 3 2015 2019
dbSNP: rs10889348
rs10889348
4 1 62612551 intron variant A/T snv 0.32 0.700 1.000 2 2018 2019
dbSNP: rs11207995
rs11207995
4 1 62583880 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs12042319
rs12042319
6 1.000 0.040 1 62584148 3 prime UTR variant G/A snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs1748197
rs1748197
5 1 62590441 intron variant G/A snv 0.42 0.700 1.000 2 2012 2012
dbSNP: rs3850634
rs3850634
4 1 62584927 intron variant T/G snv 0.33 0.34 0.700 1.000 2 2018 2019
dbSNP: rs4495740
rs4495740
5 1 62658794 intron variant T/G snv 0.34 0.700 1.000 2 2019 2019
dbSNP: rs6587980
rs6587980
4 1 62625187 synonymous variant C/T snv 0.40 0.700 1.000 2 2018 2019
dbSNP: rs10789117
rs10789117
5 1 62606594 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11207997
rs11207997
6 1 62596235 intron variant C/T snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs12047226
rs12047226
4 1 62639867 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs12048208
rs12048208
2 1 62589609 intron variant G/A snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs35529421
rs35529421
2 1 62499950 intron variant T/A;G snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs4587594
rs4587594
3 1 62668259 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs995000
rs995000
4 1 62641855 intron variant C/T snv 0.34 0.700 1.000 1 2017 2017