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: 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
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: 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: rs267597889
rs267597889
VSX1
1 1.000 0.040 20 25081705 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs368666554
rs368666554
TSC2
1 1.000 0.040 16 2080288 missense variant G/A;T snv 2.8E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs371541319
rs371541319
TSC2
1 1.000 0.040 16 2084494 missense variant C/G;T snv 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs371923032
rs371923032
TGFBI
1 1.000 0.040 5 136056715 missense variant G/A;T snv 1.6E-05; 1.6E-05 0.010 1.000 1 2016 2016
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: rs528085780
rs528085780
ZNF469
1 1.000 0.040 16 88433145 missense variant G/A snv 5.0E-04 2.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs550526986
rs550526986
TSC1
1 1.000 0.040 9 132896452 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs553460850
rs553460850
ZNF469 ; LOC112268182
1 1.000 0.040 16 88431020 missense variant G/A snv 2.4E-04 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs56157240
rs56157240
VSX1
1 1.000 0.040 20 25078745 synonymous variant A/T snv 0.26 0.30 0.010 1.000 1 2013 2013
dbSNP: rs5749482
rs5749482
SYN3 ; LOC105373002
3 0.925 0.040 22 32663679 intron variant G/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs6138482
rs6138482
VSX1
1 1.000 0.040 20 25078806 missense variant C/G;T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs6430585
rs6430585
UBXN4
2 1.000 0.040 2 135749357 intron variant A/C snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs74315434
rs74315434
VSX1
2 0.925 0.040 20 25079464 missense variant A/G;T snv 4.0E-06; 4.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs746197874
rs746197874
TSC2
1 1.000 0.040 16 2079652 missense variant G/A snv 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs751398082
rs751398082
TSC1
1 1.000 0.040 9 132896322 missense variant A/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs771561481
rs771561481
VSX1
2 0.925 0.040 20 25078931 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2011 2011
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: 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: 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: rs796053475
rs796053475
TSC2
1 1.000 0.040 16 2079646 missense variant G/A snv 8.8E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs796053494
rs796053494
TSC2
1 1.000 0.040 16 2079422 missense variant A/G snv 0.010 1.000 1 2017 2017