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: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs9614326
rs9614326
PARVB
1 22 44103463 non coding transcript exon variant A/C snv 3.6E-02 0.700 1.000 1 2018 2018
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: rs7299264
rs7299264
LINC02444
1 12 73159557 intron variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs10879569
rs10879569 		1 12 73157101 upstream gene variant A/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs1976730
rs1976730
LINC02444
1 12 73159402 non coding transcript exon variant A/G snv 0.28 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: rs2758619
rs2758619
SLC25A44
1 1 156192768 upstream gene variant A/G 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: 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: rs6427304
rs6427304 		1 1 156186998 intergenic variant A/G snv 0.43 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: 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: rs10879561
rs10879561 		1 12 73139547 intron variant A/T snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs34144381
rs34144381 		1 12 73153778 intergenic variant A/T snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs1606958
rs1606958 		1 12 73266151 intergenic variant C/A snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs7302852
rs7302852
LINC02444
1 12 73163388 intron variant C/A snv 0.28 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: rs34661740
rs34661740 		1 12 73153712 intergenic variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs12811378
rs12811378
LINC02444
1 12 73160134 intron variant C/G snv 0.28 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: 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: rs2540183
rs2540183
SLC25A44
1 1 156195094 intron variant C/G snv 0.30 0.700 1.000 1 2014 2014