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: rs10130587
rs10130587
BMP4
5 0.851 0.200 14 53952392 intron variant G/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs10133673
rs10133673
SLC25A21
2 0.925 0.120 14 37068147 intron variant T/C snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs10242177
rs10242177 		1 1.000 0.120 7 156369656 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1038294
rs1038294
COL8A1
2 0.925 0.120 3 99784884 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs10462065
rs10462065 		2 0.925 0.120 5 44068744 upstream gene variant C/A snv 8.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs104893810
rs104893810
TGFBR2
7 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
8 0.776 0.280 9 97854108 missense variant C/T snv 0.020 1.000 2 1998 2002
dbSNP: rs10512248
rs10512248
PTCH1
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs10808812
rs10808812
ZFHX4-AS1 ; LOC107986952
2 0.925 0.120 8 76593073 intron variant T/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10886040
rs10886040
SHTN1
3 0.882 0.120 10 117086783 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11066150
rs11066150
NAA25
2 0.925 0.120 12 112080999 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11072494
rs11072494
ARID3B
2 0.925 0.120 15 74596822 3 prime UTR variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs112800917
rs112800917
LOC105373887
2 0.925 0.120 2 219743055 intergenic variant CACAGAAT/- delins 0.54 0.700 1.000 1 2017 2017
dbSNP: rs113691307
rs113691307
LOC102724542
1 1.000 0.120 2 81801266 intergenic variant C/T snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11582254
rs11582254
TMCO4
2 0.925 0.120 1 19691584 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11597348
rs11597348
OPALIN
1 1.000 0.120 10 96354046 intron variant A/T snv 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11624283
rs11624283 		3 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs117496742
rs117496742
YAP1
1 1.000 0.120 11 102208982 intron variant G/A;T snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11774066
rs11774066
STK3
2 0.925 0.120 8 98443083 intron variant C/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11841646
rs11841646 		3 0.882 0.120 13 80105167 intergenic variant T/A;G snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs12175475
rs12175475
PRKN
1 1.000 0.120 6 162250424 intron variant A/T snv 2.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013