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: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs115336889
rs115336889
ROPN1L
1 1.000 0.040 5 10454257 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs10786938
rs10786938 		1 1.000 0.040 10 106280012 intergenic variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs36067435
rs36067435
ELOVL6
1 1.000 0.040 4 110180390 intron variant -/TTAT delins 0.700 1.000 1 2019 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs10054105
rs10054105
STARD4-AS1
3 0.925 0.080 5 111573636 intron variant T/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs2555019
rs2555019 		3 1.000 0.040 12 114230813 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs8853
rs8853
TBX3
4 0.882 0.120 12 114671102 3 prime UTR variant T/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs339331
rs339331
RFX6
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs10983755
rs10983755 		7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs1927907
rs1927907
TLR4
7 0.790 0.320 9 117710486 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs4548546
rs4548546
WDR11
3 1.000 0.040 10 120870067 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11199879
rs11199879 		3 1.000 0.040 10 121285698 regulatory region variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1047100
rs1047100
FGFR2
1 1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78 0.010 1.000 1 2013 2013
dbSNP: rs2981575
rs2981575
FGFR2
4 0.882 0.120 10 121586602 intron variant G/A snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs6078585
rs6078585 		1 1.000 0.040 20 12447612 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2013 2013
dbSNP: rs78105154
rs78105154
ELAC2
2 0.925 0.080 17 12994991 missense variant G/A snv 3.2E-04 7.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs5030739
rs5030739
ELAC2
8 0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02 0.010 1.000 1 2001 2001
dbSNP: rs4792311
rs4792311
ELAC2
9 0.776 0.160 17 13011692 missense variant G/A;C snv 0.27 0.010 1.000 1 2001 2001
dbSNP: rs381949
rs381949
CLPTM1L
3 1.000 0.040 5 1322353 intron variant G/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs677394
rs677394
C5orf66
2 1.000 0.040 5 135271869 intron variant G/C;T snv 0.700 1.000 1 2018 2018