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: rs104893745
rs104893745
MITF
1 1.000 0.280 3 69951882 missense variant C/G snv 0.800 1.000 1 2000 2000
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 5 2011 2016
dbSNP: rs1553704086
rs1553704086
MITF
2 0.925 0.280 3 69951856 missense variant G/A snv 0.700 0
dbSNP: rs1553704814
rs1553704814
MITF
3 0.882 0.280 3 69956461 inframe deletion AGA/- delins 0.700 0
dbSNP: rs1559751245
rs1559751245
MITF
6 0.882 0.280 3 69959280 missense variant C/G snv 0.700 0