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: rs1555179087
rs1555179087
KIF5A
1 12 57582628 missense variant A/G snv 0.800 1.000 2 2018 2018
dbSNP: rs1399145820
rs1399145820
KIF5A
1 12 57570107 missense variant A/G snv 0.700 1.000 2 2018 2018
dbSNP: rs754373609
rs754373609
KIF5A
1 12 57575096 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 2 2018 2018
dbSNP: rs113247976
rs113247976
KIF5A
2 1.000 0.080 12 57581917 missense variant C/G;T snv 4.0E-06; 1.1E-02 0.700 0
dbSNP: rs1218712729
rs1218712729
KIF5A
1 12 57582631 splice donor variant T/A snv 0.700 0
dbSNP: rs1373971092
rs1373971092
KIF5A
1 12 57572120 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1402429085
rs1402429085
KIF5A
1 12 57582599 splice region variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1555179091
rs1555179091
KIF5A
1 12 57582630 splice donor variant G/A snv 0.700 0