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: rs1037828930
rs1037828930
INTU
2 0.925 0.080 4 127669126 stop gained G/A;T snv 0.700 0
dbSNP: rs1050086118
rs1050086118
WDR35
2 0.925 0.080 2 19946549 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1360128571
rs1360128571
INTU
2 0.925 0.080 4 127700059 missense variant A/C snv 2.8E-05 0.700 0
dbSNP: rs1555369050
rs1555369050
IFT43 ; LOC105370573
2 0.925 0.080 14 76083470 missense variant T/C snv 0.700 0
dbSNP: rs1558342399
rs1558342399
WDR35
2 0.925 0.080 2 19953834 missense variant C/T snv 0.700 0
dbSNP: rs200649783
rs200649783
WDR35
5 0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs547679833
rs547679833
FLVCR1
1 1.000 0.080 1 212863771 missense variant A/C;G snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs769724508
rs769724508
IFT43
2 0.925 0.080 14 75985788 start lost T/A;C snv 8.0E-06 0.700 0
dbSNP: rs868310475
rs868310475
CILK1
1 1.000 0.080 6 53032573 stop gained C/A;T snv 0.700 0
dbSNP: rs886037869
rs886037869
IFT52
2 0.925 0.080 20 43613959 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs886037870
rs886037870
IFT52
1 1.000 0.080 20 43624000 frameshift variant T/- del 0.700 0
dbSNP: rs886044119
rs886044119
WDR35
2 0.925 0.080 2 19951417 frameshift variant G/- del 8.1E-06 1.4E-05 0.700 0
dbSNP: rs555811074
rs555811074
WDR34
2 0.925 0.120 9 128636919 missense variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2017 2017