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: rs1301705612
rs1301705612
NEK1
1 1.000 0.080 4 169589493 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs1451698951
rs1451698951
WDR19
1 1.000 0.080 4 39199546 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1553764834
rs1553764834
IFT80 ; TRIM59-IFT80
1 1.000 0.080 3 160366102 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs1553918403
rs1553918403
WDR19
1 1.000 0.080 4 39272978 splice acceptor variant A/C snv 0.700 0
dbSNP: rs376133710
rs376133710
EVC2
1 1.000 0.080 4 5576391 stop gained G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs759086770
rs759086770
TTC21B
1 1.000 0.080 2 165883873 missense variant A/G snv 0.700 0
dbSNP: rs769864196
rs769864196
EVC2
3 0.882 0.120 4 5631795 stop gained G/A snv 3.2E-05 4.9E-05 0.700 0
dbSNP: rs775836730
rs775836730
TTC21B
1 1.000 0.080 2 165929201 frameshift variant A/- delins 2.8E-05 0.700 0