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: rs12025126
rs12025126
RERE
2 0.925 0.040 1 8699495 intron variant T/C snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs12154178
rs12154178
ESR1
2 0.925 0.040 6 151929945 intron variant C/A snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs121909194
rs121909194
MYOC ; MYOCOS
3 0.882 0.040 1 171636302 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs12377632
rs12377632
TLR4
5 0.827 0.120 9 117710452 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12436579
rs12436579 		1 1.000 0.040 14 60516369 intron variant C/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1255428605
rs1255428605
OPA1 ; LOC102724808
1 1.000 0.040 3 193647160 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs1268656
rs1268656
ESR2 ; SYNE2
2 0.925 0.040 14 64180928 intron variant T/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1270841723
rs1270841723
MYOC ; MYOCOS
1 1.000 0.040 1 171636185 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12789379
rs12789379
STIP1
1 1.000 0.040 11 64195658 missense variant C/A;G snv 8.2E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs1279386
rs1279386
EDNRB-AS1 ; LOC112268121
1 1.000 0.040 13 77800045 intron variant A/T snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs1315538274
rs1315538274
MUL1
1 1.000 0.040 1 20503285 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs13186912
rs13186912
WDR36
2 1.000 0.040 5 111121006 synonymous variant A/T snv 0.33 0.26 0.010 1.000 1 2011 2011
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs1428758
rs1428758
CNTNAP4
1 1.000 0.040 16 76307609 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs143413116
rs143413116
MYOC
1 1.000 0.040 1 171652341 stop gained G/A snv 3.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs144249808
rs144249808
PRPF8
1 1.000 0.040 17 1684534 missense variant G/A snv 1.0E-04 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs145437203
rs145437203
WDR36
1 1.000 0.040 5 111092362 missense variant T/C snv 7.2E-03; 4.0E-06 7.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs1463461589
rs1463461589
NTF4
1 1.000 0.040 19 49061660 missense variant A/G snv 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1466441587
rs1466441587
VAV3
3 0.882 0.040 1 107874935 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs146737847
rs146737847
SIX6 ; C14orf39
1 1.000 0.040 14 60509783 missense variant G/A snv 4.0E-03 4.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs166850
rs166850
OPA1
2 0.925 0.160 3 193637285 splice region variant T/A;C snv 0.87 0.010 < 0.001 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs16984299
rs16984299
TXNRD2
1 1.000 0.040 22 19876070 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2018 2018