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: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.850 1.000 2 1988 2018
dbSNP: rs80356769
rs80356769
GBA
0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1989 2011
dbSNP: rs2230288
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 31 1990 2014
dbSNP: rs77834747
rs77834747
GBA
1.000 0.120 1 155238632 missense variant A/C;G snv 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 29 1990 2014
dbSNP: rs121908297
rs121908297
GBA
1.000 0.120 1 155238519 missense variant T/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908298
rs121908298
GBA
1.000 0.120 1 155237357 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908299
rs121908299
GBA
1.000 0.120 1 155238624 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908300
rs121908300
GBA
1.000 0.120 1 155238144 missense variant A/G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908301
rs121908301
GBA
1.000 0.120 1 155235057 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908302
rs121908302
GBA
1.000 0.120 1 155240033 missense variant C/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908304
rs121908304
GBA
1.000 0.120 1 155236416 missense variant C/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908307
rs121908307
GBA
1.000 0.120 1 155236261 missense variant C/G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908311
rs121908311
GBA
0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908312
rs121908312
GBA
0.925 0.120 1 155239716 missense variant C/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908314
rs121908314
GBA
1.000 0.120 1 155235841 missense variant G/C snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.810 1.000 22 1990 2009