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: rs374042455
rs374042455
POMGNT2
2 0.925 3 43080674 missense variant G/A snv 1.6E-05 0.800 1.000 1 2015 2015
dbSNP: rs1559414655
rs1559414655
POMGNT2
1 1.000 3 43080938 missense variant A/G snv 0.700 0