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: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.710 1.000 1 2013 2013
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
5 0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04 0.700 1.000 1 1990 1990
dbSNP: rs387906560
rs387906560
TYRP1 ; LURAP1L-AS1
2 0.925 0.160 9 12704545 frameshift variant A/- delins 0.700 1.000 1 1996 1996
dbSNP: rs62635045
rs62635045
GPR143 ; LOC105373126
2 0.925 0.160 X 9741349 missense variant A/C snv 0.700 1.000 1 1995 1995
dbSNP: rs749979474
rs749979474
TYR ; LOC107984363
1 1.000 0.160 11 89284852 missense variant C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2003 2003
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
7 0.807 0.160 11 89284805 missense variant C/T snv 3.8E-03; 4.0E-06 3.7E-03 0.700 0
dbSNP: rs121908011
rs121908011
TYR ; LOC107984363
6 0.827 0.160 11 89227933 missense variant G/A snv 9.2E-05 3.5E-05 0.700 0
dbSNP: rs1384042381
rs1384042381
OCA2
1 1.000 0.160 15 27957712 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs140365820
rs140365820
TYRP1 ; LURAP1L-AS1
2 0.925 0.160 9 12704706 splice donor variant G/A snv 5.6E-05 2.0E-04 0.700 0
dbSNP: rs141949212
rs141949212
OCA2
5 0.882 0.160 15 27845052 missense variant C/T snv 4.0E-05 2.0E-04 0.700 0
dbSNP: rs142931246
rs142931246
OCA2
1 1.000 0.160 15 28014795 missense variant T/C;G snv 2.5E-04 0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
9 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
16 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs376823382
rs376823382
TYR ; LOC107984363
8 0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 0.700 0
dbSNP: rs61753253
rs61753253
TYR ; LOC107984363
7 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
8 0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 0.700 0
dbSNP: rs62635042
rs62635042
GPR143 ; LOC105373126
1 1.000 0.160 X 9741444 missense variant T/A;C snv 0.700 0
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
8 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0
dbSNP: rs104894130
rs104894130
TYRP1
3 0.925 0.160 9 12695626 stop gained C/G snv 6.0E-05 2.1E-04 0.010 1.000 1 1997 1997
dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
8 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
TP53
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1351361600
rs1351361600
SLC45A2
1 1.000 0.160 5 33944733 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs144812594
rs144812594
OCA2
2 0.925 0.160 15 27986615 missense variant G/A snv 6.4E-05 2.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs1800407
rs1800407
OCA2
10 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs61753185
rs61753185
TYR ; LOC107984363
3 0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05 0.010 1.000 1 2017 2017