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: rs3806557
rs3806557
WNT10A
1 1.000 0.040 2 218879152 upstream gene variant G/A snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs4765540
rs4765540
RFLNA ; ZNF664-RFLNA
1 1.000 0.040 12 124315096 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs5009270
rs5009270 		1 1.000 0.040 7 112519123 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs568725
rs568725
NT5DC1
1 1.000 0.040 6 116109640 intron variant G/A snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs60890741
rs60890741
GSDMC
1 1.000 0.040 8 129756257 intron variant -/A;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs62063281
rs62063281
MAPT
1 1.000 0.040 17 45961419 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs62578127
rs62578127
LMX1B
1 1.000 0.040 9 126624581 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs754106
rs754106
LRCH1
1 1.000 0.040 13 46578520 intron variant C/T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs7571789
rs7571789
TGFA
1 1.000 0.040 2 70487661 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs79056043
rs79056043
LRIG3
1 1.000 0.040 12 58895817 intron variant A/G snv 7.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs798748
rs798748
SLBP ; TACC3
1 1.000 0.040 4 1715043 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs80287694
rs80287694
BMP5
1 1.000 0.040 6 55772142 intron variant A/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs835488
rs835488
CHST11
1 1.000 0.040 12 104667230 intron variant C/T snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs9350591
rs9350591 		2 0.925 0.040 6 75531811 intergenic variant C/A;T snv 0.12 0.710 1.000 3 2015 2019
dbSNP: rs12209223
rs12209223
FILIP1 ; LOC101928540
2 1.000 0.040 6 75454873 intron variant C/A snv 7.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2785988
rs2785988 		2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs4836732
rs4836732
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 2019
dbSNP: rs4907986
rs4907986
COL11A1
2 0.925 0.040 1 103084077 intron variant C/T snv 0.49 0.020 1.000 2 2014 2017
dbSNP: rs10758594
rs10758594
GLIS3
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10760442
rs10760442
LMX1B
2 1.000 0.040 9 126621621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11105466
rs11105466
LOC105369890
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs115740542
rs115740542
H2AC6 ; H2BC4
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11732213
rs11732213
SLBP
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019