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: rs104894117
rs104894117
LHX3
1 1.000 0.200 9 136199800 missense variant T/C snv 0.800 1.000 3 2000 2017
dbSNP: rs137854503
rs137854503
LHX3
1 1.000 0.200 9 136198798 missense variant G/A snv 0.800 1.000 3 2000 2017
dbSNP: rs587776711
rs587776711
LHX3
1 1.000 0.200 9 136199658 splice donor variant GTCGTCCCCTCGGCTGACCTCGC/- delins 0.700 1.000 1 2008 2008
dbSNP: rs137854504
rs137854504
LHX3
1 1.000 0.200 9 136199844 frameshift variant GC/AGGA delins 0.700 0
dbSNP: rs137854505
rs137854505
LHX3
1 1.000 0.200 9 136198755 stop gained C/T snv 0.700 0
dbSNP: rs137854506
rs137854506
LHX3
1 1.000 0.200 9 136200700 stop gained T/A snv 0.700 0
dbSNP: rs587776712
rs587776712
LHX3
1 1.000 0.200 9 136200737 frameshift variant A/- del 0.700 0