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: rs121434439
rs121434439
GNPAT
1 1.000 0.120 1 231265356 missense variant G/A snv 1.2E-05 0.800 1.000 3 1998 2012
dbSNP: rs121434440
rs121434440
GNPAT
1 1.000 0.120 1 231265355 missense variant C/T snv 8.0E-06 0.800 1.000 3 1998 2012
dbSNP: rs11558492
rs11558492
GNPAT
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.700 1.000 3 1998 2012