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: rs121434422
rs121434422
GDF1 ; CERS1
3 0.882 0.120 19 18869035 stop gained G/A;C;T snv 0.700 0
dbSNP: rs606231383
rs606231383
GDF1 ; CERS1
1 1.000 0.120 19 18868806 frameshift variant -/G delins 2.1E-04 2.2E-04 0.700 0
dbSNP: rs753643819
rs753643819
GDF1 ; UPF1 ; CERS1
1 1.000 0.120 19 18868624 inframe deletion CAT/- del 0.700 0
dbSNP: rs886039815
rs886039815
TCTEX1D2
5 0.851 0.320 3 196306939 splice region variant T/A snv 0.700 0
dbSNP: rs753050115
rs753050115
DNAH5
1 1.000 0.120 5 13807649 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2015 2015