Gene: P3H1 ×
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: rs1226770904
rs1226770904
P3H1
1 1.000 0.120 1 42747303 missense variant C/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs761033636
rs761033636
P3H1 ; C1orf50
1 1.000 0.120 1 42766971 start lost T/C;G snv 4.3E-06 0.010 1.000 1 2018 2018