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: rs1553216985
rs1553216985
GBA
1.000 0.120 1 155235721 missense variant A/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs364897
rs364897
GBA
0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.810 1.000 20 1990 2006
dbSNP: rs368060
rs368060
GBA
0.882 0.200 1 155235217 missense variant C/G snv 1.4E-04 7.7E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs61748906
rs61748906
GBA
0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 20 1990 2006
dbSNP: rs74462743
rs74462743
GBA
0.925 0.120 1 155238194 missense variant C/T snv 8.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs74979486
rs74979486
GBA
1.000 0.120 1 155236276 missense variant C/T snv 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs75548401
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs75564605
rs75564605
GBA
1.000 0.120 1 155235747 missense variant A/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs76228122
rs76228122
GBA
1.000 0.120 1 155236264 missense variant T/C snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs76500263
rs76500263
GBA
1.000 0.120 1 155238293 missense variant T/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs76910485
rs76910485
GBA
1.000 0.120 1 155235780 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs773007510
rs773007510
GBA
1.000 0.120 1 155240029 missense variant C/G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs77369218
rs77369218
GBA
0.807 0.160 1 155235726 missense variant T/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 20 1990 2006
dbSNP: rs77451368
rs77451368
GBA
1.000 0.120 1 155238173 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs781306264
rs781306264
GBA
1.000 0.120 1 155236331 missense variant C/T snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs78188205
rs78188205
GBA
1.000 0.120 1 155236399 missense variant G/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs79796061
rs79796061
GBA
0.925 0.120 1 155238608 missense variant T/A snv 8.0E-06 2.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs80356763
rs80356763
GBA
0.882 0.120 1 155238596 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs80356771
rs80356771
GBA
0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 20 1990 2014
dbSNP: rs878853321
rs878853321
GBA
0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 11 1996 2014
dbSNP: rs1553217009
rs1553217009
GBA
0.882 0.120 1 155235757 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs1553217294
rs1553217294
GBA
0.925 0.120 1 155236417 missense variant C/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs367968666
rs367968666
GBA
0.882 0.120 1 155237458 missense variant A/C snv 2.4E-04 1.6E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs75528494
rs75528494
GBA
1.000 0.120 1 155236254 missense variant G/C;T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs76071730
rs76071730
GBA
1.000 0.120 1 155235231 missense variant T/C;G snv 1.2E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014