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: rs137853122
rs137853122
1 1.000 0.080 22 37084339 stop gained A/C snv 0.700 0
dbSNP: rs137853123
rs137853123
1 1.000 0.080 22 37070557 stop gained G/A snv 5.2E-05 1.4E-05 0.700 0
dbSNP: rs1569024289
rs1569024289
1 1.000 0.080 22 37098545 stop gained G/C snv 0.700 0
dbSNP: rs386134141
rs386134141
CP
3 0.925 0.120 3 149177980 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs775869554
rs775869554
1 1.000 0.080 22 37066942 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs776877803
rs776877803
1 1.000 0.080 22 37095574 missense variant A/G;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs786205058
rs786205058
1 1.000 0.080 22 37073531 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs786205059
rs786205059
1 1.000 0.080 22 37069072 splice donor variant C/G snv 0.700 0
dbSNP: rs767094129
rs767094129
1 1.000 0.080 22 37070539 frameshift variant CC/-;C;CCC delins 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs786205060
rs786205060
1 1.000 0.080 22 37069154 frameshift variant -/GGGG delins 0.700 0
dbSNP: rs869320724
rs869320724
1 1.000 0.080 22 37069307 frameshift variant -/GC delins 8.2E-06 0.700 0