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: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs11710139
rs11710139
LOC107986141 ; LOC107986142
1 1.000 0.040 3 150341555 non coding transcript exon variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs1210326005
rs1210326005
LOXL1 ; LOXL1-AS1
1 1.000 0.040 15 73927510 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs12150284
rs12150284
GAS7
3 1.000 0.040 17 10127773 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs121909193
rs121909193
MYOC ; MYOCOS
2 0.925 0.040 1 171636349 missense variant C/A snv 0.010 1.000 1 2006 2006
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: rs121918071
rs121918071
TTR
4 0.882 0.240 18 31595209 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12377624
rs12377624
LOC105376277
2 1.000 0.040 9 126610831 intron variant G/C snv 0.28 0.700 1.000 1 2018 2018
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: rs12440667
rs12440667
LOXL1
2 1.000 0.040 15 73939098 intron variant C/A;T snv 0.700 1.000 1 2007 2007
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: rs12699251
rs12699251
THSD7A
1 1.000 0.040 7 11639486 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs12994401
rs12994401
LOC730100
2 0.925 0.040 2 51845108 intron variant C/T snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs13178997
rs13178997
WDR36
2 0.925 0.040 5 111108550 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1401907822
rs1401907822
B4GALT7
1 1.000 0.040 5 177608566 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs140967767
rs140967767
MYOC ; MYOCOS
2 0.925 0.040 1 171636106 missense variant G/A snv 1.9E-04 3.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs1437969513
rs1437969513
FOXC1
1 1.000 0.040 6 1611203 missense variant C/T snv 1.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs1438561194
rs1438561194
WDR36
1 1.000 0.040 5 111092304 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs151326733
rs151326733
DERA
1 1.000 0.040 12 16036544 intron variant G/C snv 1.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs1554200992
rs1554200992
GJA1
2 0.925 0.160 6 121446966 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1579050
rs1579050
FMNL2
3 0.925 0.040 2 152508013 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018