Gene: PMF1 ×
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: rs2984613
rs2984613
PMF1 ; PMF1-BGLAP
1 1 156227589 intron variant C/T snv 0.32 0.800 1.000 1 2014 2014
dbSNP: rs1052053
rs1052053
PMF1 ; PMF1-BGLAP
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2014 2014
dbSNP: rs1060604
rs1060604
PMF1 ; PMF1-BGLAP
1 1 156214477 intron variant T/C snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs1137703
rs1137703
PMF1 ; PMF1-BGLAP
1 1 156214667 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs2241107
rs2241107
SLC25A44 ; PMF1 ; PMF1-BGLAP
2 1.000 0.040 1 156212919 upstream gene variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs2241108
rs2241108
SLC25A44 ; PMF1 ; PMF1-BGLAP
1 1 156211216 3 prime UTR variant C/G snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2244144
rs2244144
PMF1 ; PMF1-BGLAP
1 1 156214807 intron variant G/A snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs2248074
rs2248074
PMF1 ; PMF1-BGLAP
1 1 156226097 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2251636
rs2251636
PMF1 ; PMF1-BGLAP
1 1 156233018 intron variant G/C snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs2251847
rs2251847
PMF1 ; PMF1-BGLAP
1 1 156234256 intron variant G/A snv 0.38 0.700 1.000 1 2014 2014
dbSNP: rs2540173
rs2540173
PMF1 ; PMF1-BGLAP
1 1 156218423 intron variant A/G snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2540175
rs2540175
PMF1 ; PMF1-BGLAP
1 1 156214956 intron variant T/C snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2736609
rs2736609
PMF1 ; PMF1-BGLAP
1 1 156232849 intron variant C/T snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs2736613
rs2736613
PMF1 ; PMF1-BGLAP
1 1 156226225 intron variant T/C snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs2758598
rs2758598
PMF1 ; PMF1-BGLAP
1 1 156224548 intron variant G/A snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs2758600
rs2758600
PMF1 ; PMF1-BGLAP
1 1 156225414 intron variant C/T snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs2758603
rs2758603
PMF1 ; PMF1-BGLAP
2 1 156229203 intron variant T/C snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs2758605
rs2758605
PMF1 ; PMF1-BGLAP
1 1 156230654 intron variant G/C snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs2758607
rs2758607
PMF1 ; PMF1-BGLAP
1 1 156232968 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2758608
rs2758608
PMF1 ; PMF1-BGLAP
1 1 156233069 intron variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2758609
rs2758609
PMF1 ; PMF1-BGLAP
1 1 156233077 intron variant G/A snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs2842870
rs2842870
PMF1 ; PMF1-BGLAP
2 1 156230880 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs2842873
rs2842873
PMF1 ; PMF1-BGLAP
1 1 156234862 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2853641
rs2853641
SLC25A44 ; PMF1 ; PMF1-BGLAP
2 1.000 0.040 1 156211979 3 prime UTR variant A/G snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2853643
rs2853643
PMF1 ; PMF1-BGLAP
1 1 156215040 intron variant G/A snv 0.30 0.700 1.000 1 2014 2014