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: rs5030773
rs5030773
1 1.000 0.040 19 49016273 missense variant T/C snv 0.800 0
dbSNP: rs121912517
rs121912517
LHB
1 1.000 0.040 19 49016563 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs769066903
rs769066903
LHB
1 1.000 0.040 19 49016691 inframe deletion AACAGCAGCAGC/- delins 0.700 0
dbSNP: rs786204822
rs786204822
LHB
1 1.000 0.040 19 49016546 splice donor variant C/A;G snv 0.700 0
dbSNP: rs786204823
rs786204823
LHB
1 1.000 0.040 19 49016634 inframe deletion ATGGGGTGG/- delins 0.700 0
dbSNP: rs104893836
rs104893836
7 0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03 0.010 1.000 1 2001 2001