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: rs45466197
rs45466197
1 1.000 0.080 1 201361327 missense variant C/A snv 2.2E-04 7.0E-05 0.700 0
dbSNP: rs727503513
rs727503513
2 0.925 0.080 1 201365292 missense variant G/A snv 0.700 0
dbSNP: rs863225120
rs863225120
1 1.000 0.080 1 201361970 missense variant A/G snv 0.700 0
dbSNP: rs45578238
rs45578238
4 0.882 0.080 1 201361971 inframe deletion CTT/- delins 0.700 1.000 13 2000 2013
dbSNP: rs397516470
rs397516470
4 0.851 0.080 1 201363377 inframe deletion CTC/- delins 0.700 1.000 9 1995 2016