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: rs137853202
rs137853202
SFTPB
1 1.000 0.040 2 85663814 missense variant G/A snv 2.9E-05 1.5E-04 0.800 1.000 1 1995 1995
dbSNP: rs779795223
rs779795223
SFTPB
1 1.000 0.040 2 85666648 frameshift variant -/TT ins 2.2E-04 2.4E-04 0.700 1.000 4 1994 2015
dbSNP: rs1553380888
rs1553380888
SFTPB
1 1.000 0.040 2 85665723 synonymous variant C/A snv 0.700 0
dbSNP: rs1558572491
rs1558572491
SFTPB
1 1.000 0.040 2 85661536 splice acceptor variant C/T snv 0.700 0
dbSNP: rs35328240
rs35328240
SFTPB
1 1.000 0.040 2 85666649 frameshift variant G/TTC delins 0.700 0