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: rs746549806
rs746549806
PMPCA
1 1.000 0.080 9 136417083 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 2 2015 2016
dbSNP: rs869025292
rs869025292
ENTR1 ; PMPCA
1 1.000 0.080 9 136412502 missense variant C/T snv 0.800 1.000 2 2015 2016
dbSNP: rs869025293
rs869025293
PMPCA
1 1.000 0.080 9 136423229 missense variant G/A snv 8.0E-06 0.800 1.000 2 2015 2016
dbSNP: rs753611141
rs753611141
PMPCA
14 0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.800 0
dbSNP: rs1057519454
rs1057519454
ENTR1 ; PMPCA
1 1.000 0.080 9 136410732 missense variant C/T snv 0.700 0
dbSNP: rs573267388
rs573267388
PMPCA
1 1.000 0.080 9 136416312 missense variant G/A;T snv 9.9E-05 0.700 0