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: rs77933015
rs77933015
GBA
1.000 0.120 1 155238296 missense variant A/C;T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs78657146
rs78657146
GBA
1.000 0.120 1 155238587 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs78769774
rs78769774
GBA
0.925 0.120 1 155239933 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs78911246
rs78911246
GBA
1.000 0.120 1 155238212 missense variant C/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs79215220
rs79215220
GBA
1.000 0.120 1 155237426 missense variant G/C snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs79637617
rs79637617
GBA
1.000 0.120 1 155238623 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs79660787
rs79660787
GBA
1.000 0.120 1 155238581 missense variant G/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs80116658
rs80116658
GBA
1.000 0.120 1 155237429 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs80222298
rs80222298
GBA
1.000 0.120 1 155238302 missense variant G/A snv 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs866075757
rs866075757
GBA
1.000 0.120 1 155238234 missense variant G/A;T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs1057519357
rs1057519357
GBA
1.000 0.120 1 155235792 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs1161552095
rs1161552095
GBA
0.925 0.120 1 155236307 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs121908308
rs121908308
GBA
0.925 0.120 1 155236295 missense variant G/A;C snv 8.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs1296507371
rs1296507371
GBA
0.925 0.120 1 155237433 missense variant G/T snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs1362103320
rs1362103320
GBA
1.000 0.120 1 155235201 missense variant A/G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs1392291885
rs1392291885
GBA
1.000 0.120 1 155236255 missense variant C/T snv 2.1E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs1441909908
rs1441909908
GBA
1.000 0.120 1 155238588 missense variant T/G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs1450426641
rs1450426641
GBA
0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
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