Source: BEFREE ×
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: rs121917834
rs121917834
SFTPC
9 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs4072037
rs4072037
MUC1
16 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs753455319
rs753455319
CSF2RA ; MIR3690 ; LOC112268304
1 1.000 0.040 Y 1294330 stop gained C/A;T snv 0.010 1.000 1 2014 2014