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: rs724159988
rs724159988
P3H2
1 1.000 3 189973934 missense variant C/A snv 0.800 0
dbSNP: rs724160006
rs724160006
P3H2
1 1.000 3 189995367 stop gained G/A snv 0.700 0
dbSNP: rs875989838
rs875989838
P3H2 ; P3H2-AS1
1 1.000 3 190120435 frameshift variant G/-;GG delins 0.700 0