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: rs104894178
rs104894178
PHYH
0.882 0.160 10 13283695 missense variant G/A snv 1.9E-04 7.0E-05
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.800 1.000 6 1997 2004
dbSNP: rs104894173
rs104894173
PHYH
1.000 0.120 10 13288428 missense variant C/T snv 8.0E-06; 4.0E-06 7.0E-06
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.800 1.000 5 1997 2004
dbSNP: rs104894174
rs104894174
PHYH
1.000 0.120 10 13283694 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.800 1.000 5 1997 2004
dbSNP: rs104894179
rs104894179
PHYH
1.000 0.120 10 13283713 missense variant T/G snv
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.800 1.000 5 1997 2004
dbSNP: rs28939672
rs28939672
PHYH
1.000 0.120 10 13288512 stop gained G/A;T snv
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.800 1.000 5 1997 2004
dbSNP: rs1211564430
rs1211564430
PHYH
1.000 0.120 10 13283748 missense variant A/G snv 4.0E-06
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.700 1.000 5 1997 2004
dbSNP: rs770262329
rs770262329
PHYH
1.000 0.120 10 13288508 missense variant T/C snv 1.6E-05 4.2E-05
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.700 1.000 5 1997 2004
dbSNP: rs201578674
rs201578674
PHYH
0.925 0.120 10 13295608 splice acceptor variant T/C snv 1.0E-04 1.7E-04
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.700 1.000 4 1997 2008
dbSNP: rs104894178
rs104894178
PHYH
0.882 0.160 10 13283695 missense variant G/A snv 1.9E-04 7.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 1997 1997
dbSNP: rs201499815
rs201499815
PHYH
1.000 0.080 10 13288355 splice region variant C/A snv 1.2E-03 5.7E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2004 2004
dbSNP: rs104894178
rs104894178
PHYH
0.882 0.160 10 13283695 missense variant G/A snv 1.9E-04 7.0E-05
CUI: C2749345
Disease: Refsum Disease, Adult, 1
Refsum Disease, Adult, 1 		0.700 0
dbSNP: rs1554784939
rs1554784939
PHYH
1.000 0.120 10 13294426 splice donor variant A/G snv
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.700 0
dbSNP: rs201578674
rs201578674
PHYH
0.925 0.120 10 13295608 splice acceptor variant T/C snv 1.0E-04 1.7E-04
CUI: C2749345
Disease: Refsum Disease, Adult, 1
Refsum Disease, Adult, 1 		0.700 0
dbSNP: rs730882058
rs730882058
PHYH
1.000 0.120 10 13295577 frameshift variant A/- del
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.700 0
dbSNP: rs767216891
rs767216891
PHYH
1.000 0.120 10 13288380 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.700 0
dbSNP: rs797045100
rs797045100
PHYH
1.000 0.120 10 13283751 frameshift variant CA/- delins
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.700 0