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: 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
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: rs2842864
rs2842864 		1 1 156189426 upstream gene variant G/A;C snv 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: rs2842869
rs2842869 		1 1 156190905 upstream gene variant A/G snv 0.42 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: rs2842882
rs2842882
SLC25A44
1 1 156195551 intron variant T/A;G 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
dbSNP: rs2853646
rs2853646
PMF1 ; PMF1-BGLAP
1 1 156219835 intron variant C/T snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs2984613
rs2984613
PMF1 ; PMF1-BGLAP
1 1 156227589 intron variant C/T snv 0.32 0.800 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: rs3001789
rs3001789
PMF1 ; PMF1-BGLAP
1 1 156227823 intron variant T/G snv 0.37 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: rs6427304
rs6427304 		1 1 156186998 intergenic variant A/G snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs6427307
rs6427307
PMF1 ; PMF1-BGLAP
1 1 156220292 intron variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7534434
rs7534434
PMF1 ; PMF1-BGLAP
1 1 156216824 intron variant A/G;T snv 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: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0