Gene: MITF ×
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: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.050 0.800 5 2011 2019
dbSNP: rs1449964136
rs1449964136
MITF
2 0.925 0.120 3 69936725 start lost G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019