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: rs3819392
rs3819392
KIT
2 1.000 0.040 4 54660528 intron variant G/A snv 0.28 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: rs786203623
rs786203623
MLH1
2 0.925 0.040 3 37017520 missense variant T/A;C snv 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: rs12870438
rs12870438
EPSTI1
3 0.925 0.040 13 42906069 intron variant G/A snv 0.27 0.020 1.000 2 2015 2018
dbSNP: rs7174015
rs7174015
USP8
3 0.925 0.040 15 50424871 intron variant G/A;T snv 0.020 1.000 2 2015 2018
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: rs11204546
rs11204546
OR2W3
3 0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06 0.010 1.000 1 2015 2015
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: rs188541504
rs188541504
THEG
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs553509
rs553509
H2BW1
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.010 1.000 1 2012 2012
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: 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: rs121918346
rs121918346
DAZL
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
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: rs6080550
rs6080550
LOC100289473
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2006 2006
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: rs4474514
rs4474514
KITLG
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs200750564
rs200750564
HOXD13
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs2477686
rs2477686
PLCH2
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.010 < 0.001 1 2019 2019
dbSNP: rs175080
rs175080
MLH3
9 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 0.010 1.000 1 2010 2010