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: rs6427304
rs6427304 		1 1 156186998 intergenic variant A/G snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2072499
rs2072499
SLC25A44
3 1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 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: 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: rs2253809
rs2253809
SLC25A44
1 1 156202334 intron variant T/C;G snv 0.43 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: rs2758615
rs2758615 		1 1 156188576 downstream gene variant T/C 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: rs2842857
rs2842857
SLC25A44
1 1 156198945 non coding transcript exon variant T/C snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs3001790
rs3001790
SLC25A44
1 1 156195499 intron variant T/G snv 0.42 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: rs2758619
rs2758619
SLC25A44
1 1 156192768 upstream gene variant A/G snv 0.42 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: rs2984615
rs2984615
SLC25A44
1 1 156195526 intron variant G/C snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs2842869
rs2842869 		1 1 156190905 upstream gene variant A/G snv 0.42 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: rs2266514
rs2266514
SLC25A44
1 1 156203894 intron variant T/C snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs2842865
rs2842865 		1 1 156189741 upstream gene variant G/A snv 0.42 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: rs2758605
rs2758605
PMF1 ; PMF1-BGLAP
1 1 156230654 intron variant G/C snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs3001789
rs3001789
PMF1 ; PMF1-BGLAP
1 1 156227823 intron variant T/G snv 0.37 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: rs887953
rs887953
PMF1 ; PMF1-BGLAP
1 1 156221358 intron variant T/C snv 0.36 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