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: rs118203984
rs118203984
2 0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06 0.800 1.000 5 2001 2017
dbSNP: rs765561257
rs765561257
1 1.000 0.120 6 24495274 missense variant G/A;T snv 3.9E-05 0.800 1.000 4 2001 2013
dbSNP: rs375628463
rs375628463
1 1.000 0.120 6 24515243 missense variant G/A snv 8.7E-05 8.4E-05 0.800 1.000 3 2001 2013
dbSNP: rs118203982
rs118203982
1 1.000 0.120 6 24504871 stop gained G/A snv 4.8E-05 7.0E-05 0.700 1.000 3 2001 2019
dbSNP: rs145087265
rs145087265
1 1.000 0.120 6 24515204 missense variant A/G snv 2.8E-05 6.4E-05 0.700 1.000 3 2001 2003
dbSNP: rs72552281
rs72552281
1 1.000 0.120 6 24503350 missense variant G/A snv 2.1E-05 0.700 1.000 3 2001 2003
dbSNP: rs72552282
rs72552282
1 1.000 0.120 6 24504927 missense variant G/A snv 0.700 1.000 3 2001 2003
dbSNP: rs72552283
rs72552283
1 1.000 0.120 6 24520535 missense variant C/A snv 8.0E-06 0.700 1.000 3 2001 2003
dbSNP: rs72552284
rs72552284
1 1.000 0.120 6 24533701 missense variant G/A;C snv 2.4E-05 0.700 1.000 3 2001 2003
dbSNP: rs118203983
rs118203983
1 1.000 0.120 6 24528057 stop gained C/T snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs1301821497
rs1301821497
1 1.000 0.120 6 24504867 splice acceptor variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1326526453
rs1326526453
1 1.000 0.120 6 24504957 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1561865665
rs1561865665
1 1.000 0.120 6 24495100 stop gained CCGGGCCTGCGCCCGGCCCGGCCC/- del 0.700 0
dbSNP: rs1561872640
rs1561872640
1 1.000 0.120 6 24511869 splice donor variant G/A snv 0.700 0
dbSNP: rs1561879380
rs1561879380
1 1.000 0.120 6 24528167 splice donor variant G/A;T snv 0.700 0
dbSNP: rs778127154
rs778127154
4 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 0.700 0
dbSNP: rs875989801
rs875989801
1 1.000 0.120 6 24528167 splice donor variant GTA/TT delins 0.700 0