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: rs1564801473
rs1564801473
1 1.000 0.040 10 87864406 5 prime UTR variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs1564801388
rs1564801388
1 1.000 0.040 10 87864353 5 prime UTR variant -/G delins 0.700 1.000 1 2019 2019
dbSNP: rs34808376
rs34808376
2 0.925 0.040 7 155456016 intron variant -/GC delins 0.010 1.000 1 2010 2010
dbSNP: rs1033810883
rs1033810883
1 1.000 0.040 12 48979625 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs13294439
rs13294439
2 1.000 0.040 9 23358877 intron variant A/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs1564950387
rs1564950387
1 1.000 0.040 11 687909 splice donor variant A/C snv 0.700 1.000 1 2019 2019
dbSNP: rs237897
rs237897
1 1.000 0.040 3 8766599 intron variant A/C;G snv 0.020 1.000 2 2008 2016
dbSNP: rs193024911
rs193024911
1 1.000 0.040 3 12151259 missense variant A/C;G snv 2.0E-05; 1.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs766483232
rs766483232
1 1.000 0.040 15 29114003 missense variant A/C;G snv 4.0E-06; 3.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs963968092
rs963968092
3 0.882 0.120 4 147485844 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1276388879
rs1276388879
1 1.000 0.040 1 151405647 missense variant A/C;G snv 0.700 0
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2010 2010
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2009 2019
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1131692040
rs1131692040
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs11795613
rs11795613
2 0.925 0.120 X 71147478 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1276905604
rs1276905604
1 1.000 0.040 X 14581319 missense variant A/G snv 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2017 2017
dbSNP: rs1568820
rs1568820
1 1.000 0.040 7 55413206 intron variant A/G snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 < 0.001 1 2015 2015
dbSNP: rs1800692
rs1800692
5 0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2018 2018