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: 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: rs2556378
rs2556378
BCL11A
3 1.000 0.040 2 60535367 3 prime UTR variant T/G snv 0.81 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: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs103294
rs103294 		7 0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82 0.010 1.000 1 2013 2013
dbSNP: rs11084596
rs11084596 		3 1.000 0.040 19 31614073 regulatory region variant T/C snv 0.35 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: 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: 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: rs700518
rs700518
CYP19A1 ; MIR4713HG
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.010 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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2006 2016
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: rs3797177
rs3797177
SRD5A1
1 1.000 0.040 5 6666971 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs9958656
rs9958656
LOC101927548
2 1.000 0.040 18 22324181 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs10786938
rs10786938 		1 1.000 0.040 10 106280012 intergenic variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs677394
rs677394
C5orf66
2 1.000 0.040 5 135271869 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1638703
rs1638703
DLEU1
2 1.000 0.040 13 50514220 intron variant G/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs200383755
rs200383755
GATA5
3 0.925 0.080 20 62475466 missense variant G/C snv 3.4E-03 3.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs2710383
rs2710383
SYN3
1 1.000 0.040 22 32554983 intron variant G/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs534957
rs534957
GCLC
1 1.000 0.040 6 53541553 intron variant G/C snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs148678804
rs148678804 		2 1.000 0.040 10 22138360 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.080 0.875 8 2002 2017
dbSNP: rs115336889
rs115336889
ROPN1L
1 1.000 0.040 5 10454257 intron variant G/A;C snv 0.010 1.000 1 2019 2019