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: rs13306026
rs13306026
1 1.000 0.040 20 49511026 splice donor variant A/G snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs13333226
rs13333226
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.700 0
dbSNP: rs1021737
rs1021737
CTH
2 0.925 0.120 1 70439117 missense variant G/T snv 0.28 0.24 0.010 < 0.001 1 2008 2008
dbSNP: rs11959427
rs11959427
1 1.000 0.040 5 148826465 5 prime UTR variant C/T snv 0.68 0.010 < 0.001 1 2015 2015
dbSNP: rs2048683
rs2048683
1 1.000 0.040 X 15590376 intron variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs2189480
rs2189480
VDR
2 1.000 0.040 12 47870045 intron variant G/T snv 0.36 0.010 < 0.001 1 2019 2019
dbSNP: rs2301708
rs2301708
1 1.000 0.040 5 137634104 synonymous variant C/T snv 0.22 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs3738952
rs3738952
2 1.000 0.040 2 224497761 missense variant C/T snv 0.13 8.6E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs3755885
rs3755885
1 1.000 0.040 4 2886214 intron variant C/G snv 4.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 < 0.001 1 2013 2013
dbSNP: rs41318021
rs41318021
2 1.000 0.040 13 29514470 3 prime UTR variant G/A snv 6.6E-02 6.5E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs41511344
rs41511344
5 0.882 0.040 4 148152550 stop gained G/A;T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs482843
rs482843
1 1.000 0.040 1 70406697 upstream gene variant A/G snv 0.52 0.010 < 0.001 1 2008 2008
dbSNP: rs5193
rs5193
2 1.000 0.040 X 116173571 3 prime UTR variant G/T snv 0.19 0.010 < 0.001 1 2006 2006
dbSNP: rs56204867
rs56204867
3 0.925 0.040 X 129656490 upstream gene variant A/G snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs5629
rs5629
3 0.925 0.080 20 49513169 stop gained G/A;T snv 4.0E-06; 0.25 0.010 < 0.001 1 2003 2003
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 < 0.001 1 1998 1998
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2002 2002
dbSNP: rs6632677
rs6632677
4 0.851 0.120 X 15596749 intron variant G/C snv 5.0E-03 0.010 < 0.001 1 2018 2018
dbSNP: rs7444370
rs7444370
1 1.000 0.040 5 137620994 3 prime UTR variant C/T snv 0.11 0.010 < 0.001 1 2019 2019
dbSNP: rs3761581
rs3761581
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.020 0.500 2 2010 2016
dbSNP: rs3918181
rs3918181
2 0.925 0.120 7 151004695 intron variant G/A snv 0.35 0.020 0.500 2 2013 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2005 2014
dbSNP: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.020 0.500 2 1994 2018