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: 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: rs1057518763
rs1057518763
TYR ; LOC107984363
1 1.000 0.160 11 89178026 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs1057518787
rs1057518787
GPR143
3 0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins 0.700 0
dbSNP: rs1057518841
rs1057518841
TYRP1
1 1.000 0.160 9 12695799 missense variant C/T snv 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: 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: 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: rs771055145
rs771055145
TYRP1 ; LURAP1L-AS1
1 1.000 0.160 9 12704577 missense variant A/G snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1376096651
rs1376096651
MITF
3 0.882 0.280 3 69964977 missense variant A/G;T snv 0.010 1.000 1 2009 2009