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: rs2071307
rs2071307
ELN
2 0.925 0.080 7 74056384 missense variant G/A;C snv 0.32; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs34208922
rs34208922
ELN
1 1.000 7 74069201 3 prime UTR variant -/A ins 0.30 0.010 1.000 1 2009 2009
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2002 2002