Source: ALL
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: rs1182070141
rs1182070141
SORBS1
1 1.000 0.040 10 95351213 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1196010655
rs1196010655
SORBS1
1 1.000 0.040 10 95381799 splice region variant T/C snv 4.1E-06 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs147257994
rs147257994
SORBS1
1 1.000 0.040 10 95354958 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs371928156
rs371928156
LNPEP
1 1.000 0.040 5 96998084 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs749801396
rs749801396
SORBS1
1 1.000 0.040 10 95384081 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs759029280
rs759029280
PRDX5 ; TRMT112
1 1.000 0.040 11 64318339 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs778662842
rs778662842
SORBS1
1 1.000 0.040 10 95384032 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017