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: rs1085308057
rs1085308057
1 0.925 0.160 2 47475244 missense variant A/G snv 0.700 0
dbSNP: rs1371291280
rs1371291280
1 1.000 0.160 2 47466702 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs17224367
rs17224367
2 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.700 0
dbSNP: rs386833406
rs386833406
1 1.000 0.160 2 47478337 missense variant G/A snv 0.700 0
dbSNP: rs564736113
rs564736113
1 1.000 0.160 2 47429819 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs63749841
rs63749841
1 1.000 0.160 2 47478498 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs63749936
rs63749936
1 1.000 0.160 2 47412414 missense variant A/C;G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs63750773
rs63750773
1 1.000 0.160 2 47410212 missense variant G/C snv 0.700 0
dbSNP: rs63750794
rs63750794
1 1.000 0.160 2 47476529 missense variant C/G;T snv 0.700 0
dbSNP: rs63750887
rs63750887
1 1.000 0.160 2 47408482 missense variant A/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs63750997
rs63750997
1 1.000 0.160 2 47470988 missense variant A/T snv 8.0E-06 0.700 0
dbSNP: rs63751224
rs63751224
1 1.000 0.160 2 47476502 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs63751232
rs63751232
1 1.000 0.160 2 47476372 missense variant A/G;T snv 0.700 0
dbSNP: rs63751236
rs63751236
1 0.882 0.160 2 47475064 missense variant C/G;T snv 0.700 0
dbSNP: rs63751291
rs63751291
1 1.000 0.160 2 47410251 missense variant T/C snv 0.700 0
dbSNP: rs63751444
rs63751444
1 0.925 0.160 2 47410287 missense variant T/C;G snv 0.700 0
dbSNP: rs63751454
rs63751454
1 1.000 0.160 2 47414389 missense variant G/A snv 6.0E-05 7.9E-05 0.700 0
dbSNP: rs587779067
rs587779067
1 0.882 0.200 2 47416399 missense variant C/G;T snv 0.800 1.000 37 1994 2017
dbSNP: rs63750070
rs63750070
1 0.882 0.160 2 47410245 missense variant T/C;G snv 0.800 1.000 37 1994 2017
dbSNP: rs63750232
rs63750232
1 0.925 0.160 2 47476435 missense variant G/A;C;T snv 0.700 1.000 37 1994 2017
dbSNP: rs63750398
rs63750398
1 0.925 0.160 2 47476451 missense variant G/A;T snv 0.800 1.000 37 1994 2017
dbSNP: rs63750571
rs63750571
1 1.000 0.160 2 47480770 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 37 1994 2017
dbSNP: rs267607980
rs267607980
1 1.000 0.160 2 47475093 missense variant C/A;T snv 0.700 1.000 36 1994 2017
dbSNP: rs267607982
rs267607982
1 1.000 0.160 2 47475198 stop gained C/G;T snv 1.2E-05 0.700 1.000 36 1994 2017
dbSNP: rs267608022
rs267608022
1 0.925 0.200 2 47482858 missense variant C/G;T snv 8.0E-06; 8.4E-05 0.700 1.000 36 1994 2017