Source: ALL

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: rs598769
rs598769
TYR ; LOC107984363
1.000 0.040 11 89286569 intron variant C/T snv 0.56
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 1.000 1 2018 2018
dbSNP: rs61754378
rs61754378
TYR ; LOC107984363
0.925 0.160 11 89191320 missense variant C/G snv
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		0.010 1.000 1 2014 2014
dbSNP: rs61754378
rs61754378
TYR ; LOC107984363
0.925 0.160 11 89191320 missense variant C/G snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.010 1.000 1 2013 2013
dbSNP: rs61754385
rs61754385
TYR ; LOC107984363
1.000 0.160 11 89227895 missense variant T/C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.710 1.000 1 2013 2013
dbSNP: rs621313
rs621313
TYR ; LOC107984363
1.000 0.040 11 89180495 intron variant A/G;T snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs621313
rs621313
TYR ; LOC107984363
1.000 0.040 11 89180495 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 1.000 1 2018 2018
dbSNP: rs645592
rs645592
TYR ; LOC107984363
1.000 0.040 11 89271726 intron variant T/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 1.000 1 2018 2018
dbSNP: rs7105390
rs7105390
TYR ; LOC107984363
11 89201166 intron variant T/C snv 0.19
CUI: C0337439
Disease: Iron measurement
Iron measurement 		0.700 1.000 1 2011 2011
dbSNP: rs7105390
rs7105390
TYR ; LOC107984363
11 89201166 intron variant T/C snv 0.19
CUI: C0428578
Disease: Iron level result
Iron level result 		0.700 1.000 1 2011 2011
dbSNP: rs796051880
rs796051880
TYR ; LOC107984363
1.000 0.160 11 89191284 missense variant C/T snv
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1 		0.700 1.000 1 2015 2015
dbSNP: rs1031268531
rs1031268531
TYR ; LOC107984363
1.000 0.160 11 89191362 missense variant A/G snv 4.2E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs1050708792
rs1050708792
TYR
1.000 0.160 11 89295245 missense variant C/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs1057518763
rs1057518763
TYR ; LOC107984363
1.000 0.160 11 89178026 frameshift variant -/T delins 7.0E-06
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.700 0
dbSNP: rs1338186937
rs1338186937
TYR ; LOC107984363
1.000 0.160 11 89178548 missense variant G/A snv 7.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs1555083355
rs1555083355
TYR ; LOC107984363
1.000 0.160 11 89178054 missense variant A/C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs1565386582
rs1565386582
TYR ; LOC107984363
1.000 0.160 11 89178340 frameshift variant AGA/GG delins
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs1565423674
rs1565423674
TYR ; LOC107984363
1.000 0.160 11 89284853 frameshift variant G/- delins
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs281865328
rs281865328
TYR
1.000 0.160 11 89295276 frameshift variant -/C delins
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs281865522
rs281865522
TYR ; LOC107984363
1.000 0.160 11 89227949 frameshift variant T/- delins
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs281865527
rs281865527
TYR ; LOC107984363
1.000 0.160 11 89191307 frameshift variant -/C delins
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs367543068
rs367543068
TYR ; LOC107984363
1.000 0.160 11 89178692 missense variant T/C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs61754367
rs61754367
TYR ; LOC107984363
1.000 0.160 11 89178660 stop gained G/A;C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 0
dbSNP: rs61754368
rs61754368
TYR ; LOC107984363
1.000 0.160 11 89178682 stop gained TG/- delins
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs61754369
rs61754369
TYR ; LOC107984363
1.000 0.160 11 89178710 missense variant G/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs61754379
rs61754379
TYR ; LOC107984363
1.000 0.160 11 89191355 missense variant A/G snv
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 0