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: rs139751598
rs139751598
PYCR1
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs606231471
rs606231471
ECEL1
3 0.925 0.080 2 232481123 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0