OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91
Disease: Hair Color ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7495174
rs7495174 		15 28099092 intron variant A/G snv 0.12
CUI: C0018498
Disease: Hair Color
Hair Color 		0.800 1.000 2 2008 2015
dbSNP: rs116978932
rs116978932 		15 28079766 intron variant G/A snv 6.0E-02
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs11855019
rs11855019 		15 28090674 intron variant A/G;T snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2008 2008
dbSNP: rs121918166
rs121918166 		0.925 0.160 15 27985101 missense variant C/T snv 3.0E-03 3.4E-03
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs121918167
rs121918167 		0.925 0.160 15 27871170 missense variant G/A snv 1.1E-04 2.2E-04
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs121918170
rs121918170 		1.000 0.160 15 27983383 missense variant T/A;C snv 3.5E-04 4.2E-04
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs1448489
rs1448489 		15 27934733 intron variant T/C snv 4.4E-02
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs1800407
rs1800407 		0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs4778138
rs4778138 		0.851 0.080 15 28090674 intron variant A/G;T snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2008 2008
dbSNP: rs4778224
rs4778224 		15 27995874 intron variant A/G;T snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs7169225
rs7169225 		15 27943858 intron variant G/A snv 0.51
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs7174027
rs7174027 		15 28083619 intron variant G/A snv 0.23
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2008 2008
dbSNP: rs72625132
rs72625132 		15 27968778 intron variant T/C snv 0.19
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs74653330
rs74653330 		0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs924318
rs924318 		15 27848288 intron variant A/G snv 0.77
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018