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: rs10174126
rs10174126
SH3BP4
1 1.000 0.080 2 235052249 intron variant T/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs1030608
rs1030608
CCDC26
1 1.000 0.080 8 128727506 intron variant G/A snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs1030609
rs1030609
CCDC26
1 1.000 0.080 8 128727631 intron variant C/A;G snv 0.700 1.000 1 2012 2012
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: rs1044516
rs1044516
IRF6 ; C1orf74
1 1.000 0.080 1 209786269 3 prime UTR variant G/T snv 0.23 0.700 1.000 1 2010 2010
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: rs10511145
rs10511145 		1 1.000 0.080 3 89548529 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
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: rs1057518960
rs1057518960
GJA1
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
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: rs10779526
rs10779526 		1 1.000 0.080 1 210178851 intergenic variant T/A;C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs10808576
rs10808576
CCDC26
1 1.000 0.080 8 129051725 intron variant T/G snv 0.33 0.700 1.000 1 2012 2012
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: rs10863790
rs10863790 		1 1.000 0.080 1 209814702 regulatory region variant A/C snv 3.9E-02 0.800 1.000 1 2010 2010
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: rs10956453
rs10956453
CCDC26
1 1.000 0.080 8 128937545 intron variant G/C snv 0.72 0.700 1.000 1 2009 2009
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: rs11119388
rs11119388
SYT14
1 1.000 0.080 1 210001072 intron variant A/G snv 4.4E-02 0.700 1.000 1 2010 2010
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: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2014 2014
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: rs11506137
rs11506137
CCDC26
1 1.000 0.080 8 128916902 non coding transcript exon variant C/T snv 0.45 0.700 1.000 1 2009 2009