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: rs786204843
rs786204843
P4HB
2 0.925 0.200 17 81845742 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs863225043
rs863225043
CRTAP
2 0.925 0.200 3 33114195 stop gained G/A;T snv 4.7E-06 0.010 1.000 1 2015 2015