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: rs118204090
rs118204090
ACOX1
1 1.000 0.160 17 75953563 missense variant T/C snv 0.800 0
dbSNP: rs118204091
rs118204091
ACOX1
1 1.000 0.160 17 75957465 missense variant C/A;T snv 0.800 0
dbSNP: rs118204092
rs118204092
ACOX1
1 1.000 0.160 17 75953469 missense variant T/C snv 0.800 0
dbSNP: rs118204093
rs118204093
ACOX1
1 1.000 0.160 17 75957555 stop gained G/A snv 0.700 0
dbSNP: rs1567892272
rs1567892272
ACOX1 ; TEN1 ; TEN1-CDK3
1 1.000 0.160 17 75978664 frameshift variant G/- delins 0.700 0
dbSNP: rs387906248
rs387906248
ACOX1
1 1.000 0.160 17 75960256 inframe deletion TTCCAGGCGGGCATGAAG/- delins 0.700 0
dbSNP: rs758962364
rs758962364
ACOX1
1 1.000 0.160 17 75953467 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs777937235
rs777937235
ACOX1 ; TEN1 ; TEN1-CDK3
1 1.000 0.160 17 75978627 missense variant C/G snv 8.0E-06 0.700 0
dbSNP: rs780887410
rs780887410
ACOX1
1 1.000 0.160 17 75955935 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs797045080
rs797045080
ACOX1
1 1.000 0.160 17 75948335 frameshift variant A/- delins 4.0E-06 0.700 0