Source: CURATED

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: rs80358199
rs80358199
FUCA1
1.000 0.120 1 23846105 missense variant A/C snv 7.0E-06
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.800 1.000 3 1993 1998
dbSNP: rs80358195
rs80358195
FUCA1
1.000 0.120 1 23848671 stop gained C/A;G snv 8.0E-06; 4.0E-05
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 1.000 4 1989 1995
dbSNP: rs118204450
rs118204450
FUCA1
1.000 0.120 1 23845837 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 1.000 3 1993 1999
dbSNP: rs1557510081
rs1557510081
FUCA1
1.000 0.120 1 23854519 frameshift variant G/- delins
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 1.000 1 1993 1993
dbSNP: rs3003333
rs3003333
FUCA1
1 23867524 intron variant A/T snv 0.42
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1353778985
rs1353778985
FUCA1
1.000 0.120 1 23868093 missense variant C/T snv
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs189315801
rs189315801
FUCA1
1.000 0.120 1 23863232 stop gained C/A;T snv
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs587779398
rs587779398
FUCA1
1.000 0.120 1 23865551 missense variant G/A snv 8.0E-06
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs587779399
rs587779399
FUCA1
1.000 0.120 1 23854539 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs753232669
rs753232669
FUCA1
1.000 0.120 1 23865593 missense variant C/A;G snv 4.0E-06; 2.0E-05
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.700 0
dbSNP: rs80358196
rs80358196
FUCA1
1.000 0.120 1 23868043 stop gained G/A snv 8.4E-06 1.4E-05
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs80358197
rs80358197
FUCA1
1.000 0.120 1 23848649 stop gained C/T snv 4.0E-06
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0
dbSNP: rs80358198
rs80358198
FUCA1
1.000 0.120 1 23863148 stop gained G/A;T snv 4.8E-04
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		0.700 0