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: rs587777079
rs587777079
IFT172
2 0.925 0.160 2 27447544 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 1 2013 2013
dbSNP: rs587777085
rs587777085
IFT172
1 1.000 2 27477310 missense variant A/T snv 0.800 1.000 1 2013 2013
dbSNP: rs149614625
rs149614625
IFT172 ; KRTCAP3
1 1.000 2 27444503 missense variant A/G snv 1.2E-05 4.2E-05 0.800 0
dbSNP: rs587777080
rs587777080
IFT172
2 0.925 2 27447567 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1250676888
rs1250676888
IFT172
2 0.925 2 27480124 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs139021548
rs139021548
IFT172
1 1.000 2 27485431 stop gained G/A;C snv 2.4E-05; 8.0E-06 0.700 0
dbSNP: rs145541911
rs145541911
IFT172
2 0.925 2 27480049 missense variant G/A snv 9.2E-05 2.9E-04 0.700 0
dbSNP: rs750338419
rs750338419
IFT172
3 0.882 0.080 2 27459399 stop gained -/T delins 1.2E-05 0.700 0