Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909152
rs121909152
PEX7
0.851 0.160 6 136869905 missense variant G/A snv 3.6E-05 4.9E-05
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.800 1.000 5 1997 2013
dbSNP: rs121909151
rs121909151
PEX7
0.851 0.160 6 136869909 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.800 1.000 4 1997 2002
dbSNP: rs61753233
rs61753233
PEX7
0.851 0.160 6 136822705 missense variant A/C snv
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2 		0.800 1.000 1 2003 2003
dbSNP: rs1805137
rs1805137
PEX7
0.827 0.160 6 136898213 stop gained T/A snv 3.3E-04 4.7E-04
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2 		0.700 1.000 8 1997 2015
dbSNP: rs1805137
rs1805137
PEX7
0.827 0.160 6 136898213 stop gained T/A snv 3.3E-04 4.7E-04
CUI: C1866352
Disease: Peroxisome Biogenesis Disorder, Complementation Group R
Peroxisome Biogenesis Disorder, Complementation Group R 		0.700 1.000 8 1997 2015
dbSNP: rs1805137
rs1805137
PEX7
0.827 0.160 6 136898213 stop gained T/A snv 3.3E-04 4.7E-04
CUI: C1866351
Disease: Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group 11 		0.700 1.000 8 1997 2015
dbSNP: rs1805137
rs1805137
PEX7
0.827 0.160 6 136898213 stop gained T/A snv 3.3E-04 4.7E-04
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 7 1997 2011
dbSNP: rs121909151
rs121909151
PEX7
0.851 0.160 6 136869909 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C1866352
Disease: Peroxisome Biogenesis Disorder, Complementation Group R
Peroxisome Biogenesis Disorder, Complementation Group R 		0.700 1.000 5 1997 2002
dbSNP: rs121909151
rs121909151
PEX7
0.851 0.160 6 136869909 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C1866351
Disease: Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group 11 		0.700 1.000 5 1997 2002
dbSNP: rs121909151
rs121909151
PEX7
0.851 0.160 6 136869909 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2 		0.700 1.000 5 1997 2002
dbSNP: rs121909154
rs121909154
PEX7
0.851 0.160 6 136845620 stop gained T/G snv 4.0E-05 7.0E-06
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 5 2002 2015
dbSNP: rs121909153
rs121909153
PEX7
1.000 0.120 6 136869950 stop gained C/T snv 4.0E-06
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 4 1999 2015
dbSNP: rs148591292
rs148591292
PEX7
0.851 0.160 6 136898242 splice donor variant G/C snv 6.0E-05 1.1E-04
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 4 1997 2013
dbSNP: rs121909152
rs121909152
PEX7
0.851 0.160 6 136869905 missense variant G/A snv 3.6E-05 4.9E-05
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2 		0.700 1.000 3 1997 2002
dbSNP: rs121909152
rs121909152
PEX7
0.851 0.160 6 136869905 missense variant G/A snv 3.6E-05 4.9E-05
CUI: C1866351
Disease: Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group 11 		0.700 1.000 3 1997 2002
dbSNP: rs121909152
rs121909152
PEX7
0.851 0.160 6 136869905 missense variant G/A snv 3.6E-05 4.9E-05
CUI: C1866352
Disease: Peroxisome Biogenesis Disorder, Complementation Group R
Peroxisome Biogenesis Disorder, Complementation Group R 		0.700 1.000 3 1997 2002
dbSNP: rs61753238
rs61753238
PEX7
0.827 0.160 6 136822785 stop gained C/A;G;T snv 4.2E-05; 8.3E-05; 4.2E-05
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 3 2002 2003
dbSNP: rs61753245
rs61753245
PEX7
1.000 0.120 6 136866718 stop gained G/A snv 1.2E-05 3.5E-05
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 3 2002 2011
dbSNP: rs61753236
rs61753236
PEX7
1.000 0.120 6 136822739 missense variant C/T snv
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 2 2002 2013
dbSNP: rs1057516882
rs1057516882
PEX7
1.000 0.120 6 136822725 stop gained C/G snv
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 1 2002 2002
dbSNP: rs148591292
rs148591292
PEX7
0.851 0.160 6 136898242 splice donor variant G/C snv 6.0E-05 1.1E-04
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2 		0.700 1.000 1 1997 1997
dbSNP: rs148591292
rs148591292
PEX7
0.851 0.160 6 136898242 splice donor variant G/C snv 6.0E-05 1.1E-04
CUI: C1866352
Disease: Peroxisome Biogenesis Disorder, Complementation Group R
Peroxisome Biogenesis Disorder, Complementation Group R 		0.700 1.000 1 1997 1997
dbSNP: rs148591292
rs148591292
PEX7
0.851 0.160 6 136898242 splice donor variant G/C snv 6.0E-05 1.1E-04
CUI: C1866351
Disease: Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group 11 		0.700 1.000 1 1997 1997
dbSNP: rs1554335926
rs1554335926
PEX7
1.000 0.120 6 136898152 frameshift variant T/- delins
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 1 2002 2002
dbSNP: rs1554335937
rs1554335937
PEX7
1.000 0.120 6 136898208 frameshift variant GGTT/- delins
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		0.700 1.000 1 2002 2002