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: rs10508293
rs10508293
AKR1C3
1 1.000 0.040 10 5098945 intron variant A/G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs17433222
rs17433222
C1QB
1 1.000 0.040 1 22652153 upstream gene variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs227092
rs227092
ATM ; C11orf65
1 1.000 0.040 11 108366056 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7939734
rs7939734 		1 1.000 0.040 11 70208839 upstream gene variant T/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs10931910
rs10931910
AOX1
2 0.925 0.040 2 200659013 intron variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1258094111
rs1258094111
CTSG
2 0.925 0.040 14 24575388 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs17886724
rs17886724
STAT3
2 0.925 0.040 17 42344145 intron variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs201045130
rs201045130
NT5C1A
2 0.925 0.040 1 39659467 missense variant A/G snv 9.9E-05 1.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs201820837
rs201820837
ETV6
2 0.925 0.040 12 11869532 missense variant G/A;T snv 2.4E-05; 6.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs2301696
rs2301696
TRPM5
2 1.000 0.040 11 2405754 intron variant G/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs703817
rs703817
STAT6
2 0.925 0.120 12 57096045 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs754894156
rs754894156
RUNX1
2 0.925 0.040 21 34834544 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs765669662
rs765669662
CA2 ; CA3-AS1
2 0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs947141826
rs947141826
MTG1
2 0.925 0.040 10 133394281 missense variant C/T snv 2.1E-05 0.010 1.000 1 1993 1993
dbSNP: rs10405859
rs10405859
MARK4 ; PPP1R37
3 0.882 0.080 19 45099523 intron variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs139834892
rs139834892
XRCC1
3 0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs227060
rs227060
ATM ; C11orf65
3 0.882 0.160 11 108334154 intron variant C/T snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2308950
rs2308950
CASP9
3 0.882 0.040 1 15507011 missense variant C/G;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs3794845
rs3794845
MBP
3 0.882 0.120 18 77002561 intron variant G/C snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs6964823
rs6964823
IKZF1
3 0.925 0.040 7 50392398 intron variant G/A snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs766274360
rs766274360
PRSS27
3 0.882 0.040 16 2713697 missense variant G/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs9318227
rs9318227
KLF12
3 0.882 0.080 13 73926833 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10251201
rs10251201
UMAD1
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11079041
rs11079041
STAT5B
4 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1188975135
rs1188975135
APOBEC3C ; APOBEC3F
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017