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: rs587777599
rs587777599
PRPF4
2 0.925 0.080 9 113288183 missense variant C/T snv 8.0E-06 0.800 1.000 2 2014 2014
dbSNP: rs41296057
rs41296057
PRPF4
2 0.925 0.080 9 113283400 missense variant G/A snv 2.1E-05 0.700 1.000 2 2014 2014
dbSNP: rs541873609
rs541873609
PRPF4 ; CDC26
1 1.000 9 113275630 5 prime UTR variant TGTCAGTGACGCACTTCC/-;TGTCAGTGACGCACTTCCTGTCAGTGACGCACTTCC delins 8.4E-05 0.700 0