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: rs28934872
rs28934872
5 0.846 0.250 16 2070571 missense variant G/A snp 0.800 3 1996 2000
dbSNP: rs118203388
rs118203388
1 1.000 0.107 9 132923361 stop gained G/T snp 0.700 2 1971 2002
dbSNP: rs118203427
rs118203427
4 0.846 0.179 9 132921418 stop gained G/A snp 0.700 1 2015 2015
dbSNP: rs118203542
rs118203542
5 0.821 0.250 9 132906053 stop gained G/A snp 0.700 1 2015 2015
dbSNP: rs45517148
rs45517148
2 0.923 0.179 16 2060790 stop gained G/A,C,T snp 1.6E-05; 4.0E-06 3.2E-05 0.700 1 2000 2000
dbSNP: rs118203387
rs118203387
2 0.923 0.179 9 132923365 stop gained C/T snp 0.700 0
dbSNP: rs137854218
rs137854218
4 0.878 0.179 16 2088293 inframe deletion CCGGCTCCGCCACATCAAG/C in-del 0.700 0
dbSNP: rs45477491
rs45477491
3 0.878 0.179 16 2080209 stop gained C/T snp 0.700 0
dbSNP: rs45483392
rs45483392
4 0.846 0.250 16 2087897 missense variant C/T snp 0.700 0
dbSNP: rs45517179
rs45517179
3 0.878 0.179 16 2064341 stop gained C/T snp 0.700 0