Gene: MMEL1 ×
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: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.810 0.750 4 2008 2019
dbSNP: rs2843401
rs2843401
MMEL1
1 1.000 0.120 1 2596694 splice region variant T/C snv 0.61 0.59 0.800 1.000 2 2012 2015
dbSNP: rs187786174
rs187786174
MMEL1
1 1.000 0.120 1 2592372 intron variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs4073285
rs4073285
MMEL1
2 0.925 0.200 1 2608357 intron variant C/T snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs6684865
rs6684865
MMEL1
2 0.925 0.160 1 2614790 intron variant G/A snv 0.40 0.010 1.000 1 2010 2010