Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0001916
Disease: Albinism
Albinism 		0.710 1.000 1 2013 2013
dbSNP: rs104894130
rs104894130
TYRP1
0.925 0.160 9 12695626 stop gained C/G snv 6.0E-05 2.1E-04
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 1997 1997
dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
TP53
0.742 0.360 17 7673800 missense variant C/A;G snv
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2016 2016
dbSNP: rs1351361600
rs1351361600
SLC45A2
1.000 0.160 5 33944733 missense variant G/A snv 7.0E-06
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2017 2017
dbSNP: rs144812594
rs144812594
OCA2
0.925 0.160 15 27986615 missense variant G/A snv 6.4E-05 2.3E-04
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2014 2014
dbSNP: rs1800407
rs1800407
OCA2
0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2013 2013
dbSNP: rs61753185
rs61753185
TYR ; LOC107984363
0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2017 2017
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
0.827 0.160 11 89227904 missense variant C/A snv 3.4E-04 5.0E-04
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2018 2018
dbSNP: rs748527966
rs748527966
MITF
1.000 0.160 3 69965154 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2017 2017