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: rs11531577
rs11531577
STAG3
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1161498711
rs1161498711
STAG3 ; CASTOR3
1 7 100198492 missense variant T/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs751680143
rs751680143
STAG3 ; CASTOR3
1 7 100198542 stop gained C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs4804490
rs4804490
DNMT1
1 19 10156335 intron variant C/A snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs17115149
rs17115149
CYP17A1
4 0.882 0.160 10 102837961 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs553509
rs553509
H2BW1
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.030 1.000 3 2012 2018
dbSNP: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1555979575
rs1555979575
CLDN2 ; MORC4
2 1.000 0.040 X 106928709 missense variant G/C snv 0.700 0
dbSNP: rs191547831
rs191547831
SLC26A3
1 7 107772054 missense variant C/G snv 8.4E-04 8.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs1805388
rs1805388
LIG4
11 0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 0.010 1.000 1 2013 2013
dbSNP: rs952566855
rs952566855
ATM
1 11 108259068 missense variant A/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4045481
rs4045481
RNF212
2 1.000 0.040 4 1096837 stop gained G/A snv 0.64 0.57 0.010 1.000 1 2018 2018
dbSNP: rs1050482
rs1050482
SLC20A1
1 2 112663757 3 prime UTR variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2070923
rs2070923
PRM2 ; RMI2 ; LOC105371082
1 16 11275998 intron variant G/C;T snv 4.1E-06; 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1646022
rs1646022
PRM2 ; RMI2 ; LOC105371082
1 16 11276073 intron variant C/G;T snv 0.37 0.020 1.000 2 2017 2018
dbSNP: rs375376464
rs375376464
PRM2 ; RMI2 ; LOC105371082
1 16 11276355 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs737008
rs737008
PRM1 ; RMI2 ; LOC105371082
2 16 11281009 stop gained G/A;T snv 4.0E-06; 0.58 0.010 1.000 1 2017 2017
dbSNP: rs2301365
rs2301365
PRM1 ; RMI2 ; LOC105371082
1 16 11281429 intron variant G/T snv 0.21 0.030 1.000 3 2015 2018
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.688 16 2005 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.926 27 2003 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2013 2015
dbSNP: rs121965059
rs121965059
OAT
4 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.020 1.000 2 2005 2015