Source: CURATED ×
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: rs1057516212
rs1057516212
SERPINA1
3 0.925 0.160 14 94382947 frameshift variant AGTG/- delins 0.700 0
dbSNP: rs113993959
rs113993959
CFTR
19 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
7 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
dbSNP: rs587777630
rs587777630
STAT1
15 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
dbSNP: rs74597325
rs74597325
CFTR
16 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs770861172
rs770861172
DNAH7
6 0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs777516785
rs777516785
USP11
5 0.882 0.120 X 47242504 synonymous variant G/A snv 1.1E-05 0.700 0