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 0.100 1.000 13 2011 2019
dbSNP: rs1176796243
rs1176796243
MITF
1 1.000 0.040 3 69941240 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1425262191
rs1425262191
MITF
1 1.000 0.040 3 69965160 missense variant C/T snv 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs201351378
rs201351378
MITF
1 1.000 0.040 3 69964926 missense variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs757354709
rs757354709
MITF
1 1.000 0.040 3 69964946 missense variant G/A snv 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs763904674
rs763904674
MITF
1 1.000 0.040 3 69879261 missense variant C/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs781298935
rs781298935
MITF
1 1.000 0.040 3 69965141 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012