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: rs786205855
rs786205855
IFT172 ; KRTCAP3
1 1.000 2 27446314 missense variant G/T snv 0.800 0
dbSNP: rs786205856
rs786205856
IFT172 ; KRTCAP3
1 1.000 2 27445929 missense variant A/C snv 0.800 0
dbSNP: rs786205857
rs786205857
IFT172
1 1.000 2 27481061 missense variant A/G snv 0.800 0
dbSNP: rs1250676888
rs1250676888
IFT172
2 0.925 2 27480124 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs370540673
rs370540673
IFT172
1 1.000 2 27471096 splice acceptor variant C/A;T snv 4.2E-06; 8.4E-06 0.700 0
dbSNP: rs750338419
rs750338419
IFT172
3 0.882 0.080 2 27459399 stop gained -/T delins 1.2E-05 0.700 0
dbSNP: rs786205858
rs786205858
IFT172
1 1.000 2 27457760 splice region variant A/T snv 0.700 0