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: 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: rs2253677
rs2253677
SLC25A44
2 1.000 0.040 1 156201505 intron variant C/G snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs2253809
rs2253809
SLC25A44
1 1 156202334 intron variant T/C;G snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2266514
rs2266514
SLC25A44
1 1 156203894 intron variant T/C snv 0.42 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: rs2540183
rs2540183
SLC25A44
1 1 156195094 intron variant C/G snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs2736605
rs2736605
SLC25A44
1 1 156204684 intron variant T/C snv 0.42 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: rs2758615
rs2758615 		1 1 156188576 downstream gene variant T/C snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2758616
rs2758616 		1 1 156190567 upstream gene variant T/C snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs2758618
rs2758618 		1 1 156191101 upstream gene variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs2758619
rs2758619
SLC25A44
1 1 156192768 upstream gene variant A/G snv 0.42 0.700 1.000 1 2014 2014