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: rs1049112
rs1049112
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
1 1.000 0.080 12 10930757 missense variant A/G;T snv 0.11; 1.4E-05 0.010 1.000 1 2017 2017