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: rs1559751245
rs1559751245
MITF
6 0.882 0.280 3 69959280 missense variant C/G snv 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: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
dbSNP: rs387907217
rs387907217
KIT
4 0.882 0.120 4 54727907 missense variant T/C snv 0.020 1.000 2 2006 2006
dbSNP: rs1057517718
rs1057517718
CLCN7
4 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs119473031
rs119473031
MLPH
3 0.882 0.320 2 237493529 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1477692170
rs1477692170
POMC
2 0.925 0.160 2 25161686 stop gained C/A;G;T snv 1.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1800414
rs1800414
OCA2
4 0.851 0.200 15 27951891 missense variant T/A;C snv 4.0E-06; 4.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs61749455
rs61749455
ABCA4
3 0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs74653330
rs74653330
OCA2
5 0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs917202708
rs917202708
POMC
2 0.925 0.160 2 25161716 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs965705838
rs965705838
MITF
2 0.925 0.160 3 69939113 missense variant G/A snv 0.010 1.000 1 2017 2017