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: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs756021768
rs756021768
MARS1 ; MIR6758
2 0.925 0.040 12 57512811 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs80358263
rs80358263
NPC2
7 0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06 0.700 0
dbSNP: rs879253740
rs879253740
NPC2 ; ISCA2
5 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0
dbSNP: rs121917834
rs121917834
SFTPC
10 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
22 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