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: rs104893623
rs104893623
CYP1B1 ; CYP1B1-AS1
2 0.925 0.120 2 38075219 stop gained C/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs104893951
rs104893951
FOXC1
5 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs104894175
rs104894175
PITX3
3 0.882 0.200 10 102232043 missense variant C/T snv 4.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs121907913
rs121907913
PAX6
5 0.827 0.080 11 31802769 missense variant G/C snv 0.010 1.000 1 1994 1994
dbSNP: rs151021417
rs151021417
FOXD3 ; FOXD3-AS1
2 0.925 0.080 1 63323575 missense variant A/C snv 7.2E-05 1.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs184767331
rs184767331
FOXD3 ; FOXD3-AS1
2 0.925 0.080 1 63323105 missense variant C/T snv 4.5E-04 4.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs202186939
rs202186939
FOXD3 ; FOXD3-AS1
2 0.925 0.080 1 63323417 missense variant C/T snv 1.1E-03 9.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs672601349
rs672601349
COL4A1
2 0.925 0.160 13 110181363 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs72549387
rs72549387
CYP1B1 ; CYP1B1-AS1
7 0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04 0.010 1.000 1 2002 2002
dbSNP: rs780002791
rs780002791
CYP1B1 ; CYP1B1-AS1
3 0.882 0.080 2 38075306 missense variant G/C snv 2.5E-05 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs80338852
rs80338852
B3GLCT
3 0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs866429341
rs866429341
PAX3 ; CCDC140
1 1.000 0.080 2 222298546 missense variant C/A;T snv 4.4E-06 0.010 1.000 1 1997 1997