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: rs1324183
rs1324183 		2 1.000 0.040 9 13557492 intron variant A/C;T snv 0.030 1.000 3 2013 2018
dbSNP: rs1536482
rs1536482 		3 1.000 0.040 9 134548682 upstream gene variant G/A snv 0.36 0.030 1.000 3 2013 2015
dbSNP: rs2721051
rs2721051 		3 1.000 0.040 13 40536747 intron variant C/T snv 8.6E-02 0.030 1.000 3 2013 2015
dbSNP: rs9938149
rs9938149 		4 0.925 0.160 16 88298034 intron variant C/A snv 0.66 0.030 0.667 3 2013 2017
dbSNP: rs12407427
rs12407427 		1 1.000 0.040 1 245133143 downstream gene variant C/T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs8111998
rs8111998 		2 1.000 0.040 19 22558873 downstream gene variant C/T snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs77542162
rs77542162
ABCA6
11 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs6795735
rs6795735
ADAMTS9-AS2
7 0.882 0.120 3 64719689 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4434401
rs4434401
CAST
2 0.925 0.040 5 96703321 intron variant T/C snv 0.45 0.020 1.000 2 2013 2018
dbSNP: rs7943316
rs7943316
CAT
2 0.925 0.040 11 34438925 upstream gene variant A/T snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs55703767
rs55703767
COL4A3 ; MFF-DT
3 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.020 1.000 2 2017 2020
dbSNP: rs2229813
rs2229813
COL4A4
1 1.000 0.040 2 227028004 missense variant C/G;T snv 0.47 0.020 1.000 2 2014 2015
dbSNP: rs2228555
rs2228555
COL4A4
1 1.000 0.040 2 227008279 synonymous variant T/C snv 0.56 0.58 0.010 < 0.001 1 2015 2015
dbSNP: rs2228557
rs2228557
COL4A4
1 1.000 0.040 2 227007466 synonymous variant G/A snv 0.47 0.48 0.010 1.000 1 2019 2019
dbSNP: rs7044529
rs7044529
COL5A1
2 1.000 0.040 9 134676205 intron variant C/T snv 0.21 0.030 1.000 3 2013 2015
dbSNP: rs191047852
rs191047852
DOCK9
1 1.000 0.040 13 98885709 missense variant T/G snv 6.9E-05 3.5E-05 0.020 1.000 2 2012 2015
dbSNP: rs776706349
rs776706349
DOCK9
1 1.000 0.040 13 98888400 missense variant G/A snv 4.8E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4894535
rs4894535
FNDC3B
2 1.000 0.040 3 172277815 intron variant C/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2286194
rs2286194
HGF
2 0.925 0.040 7 81726133 intron variant T/A snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs3735520
rs3735520
HGF
4 0.851 0.040 7 81771623 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs202105296
rs202105296
HKDC1
1 1.000 0.040 10 69243340 missense variant G/A snv 8.5E-05 1.8E-04 0.010 1.000 1 2016 2016