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: rs1057518871
rs1057518871
COL5A1
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0