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: 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: rs10785010
rs10785010
LINC02444
1 12 73157487 upstream gene variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs10879567
rs10879567 		1 12 73156312 upstream gene variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11179569
rs11179569 		1 12 73153274 intergenic variant G/A;C;T snv 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: rs11587860
rs11587860 		1 1 156187160 downstream gene variant G/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1976729
rs1976729
LINC02444
1 12 73159309 non coding transcript exon variant G/A;C;T 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: rs2248074
rs2248074
PMF1 ; PMF1-BGLAP
1 1 156226097 intron variant C/A;T snv 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: rs2758618
rs2758618 		1 1 156191101 upstream gene variant T/C;G snv 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: 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: rs34661740
rs34661740 		1 12 73153712 intergenic variant C/A;T snv 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: rs7299264
rs7299264
LINC02444
1 12 73159557 intron variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7312029
rs7312029 		1 12 73155046 upstream gene variant C/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: rs7960698
rs7960698
LINC02444
1 12 73158334 upstream gene variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
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