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: rs172378
rs172378
C1QA
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs758653954
rs758653954
EFS
2 0.925 0.120 14 23357350 frameshift variant -/C delins 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs931920092
rs931920092
EFS
2 0.925 0.120 14 23357350 missense variant G/A;C snv 0.010 1.000 1 2012 2012