Source: ALL
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: rs16895863
rs16895863
UBR2
1 1.000 0.040 6 42603608 synonymous variant A/T snv 0.20 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2274911
rs2274911
GPRC6A
6 0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 0.010 1.000 1 2016 2016
dbSNP: rs373341
rs373341
UBR2
1 1.000 0.040 6 42691014 intron variant T/C;G snv 0.49; 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs3749897
rs3749897
UBR2
1 1.000 0.040 6 42564364 missense variant C/G;T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs724078
rs724078 		3 0.925 0.040 6 29521271 intergenic variant G/A snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs10269148
rs10269148
STRA8
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1059060
rs1059060
PMS2
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1248142939
rs1248142939
PMS2
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs17420802
rs17420802
PMS2
2 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs587781908
rs587781908
PMS2
2 0.925 0.040 7 6005973 missense variant A/G snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs763468927
rs763468927
PMS2
2 0.925 0.040 7 5977755 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs864622096
rs864622096
PMS2
2 0.925 0.040 7 5986916 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1042064
rs1042064
EPHX2
2 0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs10966811
rs10966811 		2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs12348
rs12348
TUSC1
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs12376894
rs12376894 		1 1.000 0.040 9 25268869 intergenic variant A/G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs7867029
rs7867029
LOC107987083
3 0.925 0.040 9 78405502 intergenic variant G/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs886039769
rs886039769
NR5A1
10 0.807 0.160 9 124500686 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10835638
rs10835638
FSHB ; LOC105376607
2 0.925 0.080 11 30230805 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs508485
rs508485
PIWIL4 ; LOC105369438
1 1.000 0.040 11 94621313 3 prime UTR variant C/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.010 < 0.001 1 2019 2019
dbSNP: rs11046992
rs11046992
SOX5
1 1.000 0.040 12 23584632 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013