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: rs104895304
rs104895304
MVK
0.827 0.280 12 109591275 missense variant T/C snv 1.5E-04 1.7E-04
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.810 1.000 16 1992 2017
dbSNP: rs104895319
rs104895319
MVK
0.851 0.240 12 109595070 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.810 1.000 6 1992 2010
dbSNP: rs121917789
rs121917789
MVK
0.925 0.200 12 109595044 missense variant A/C;G snv 4.0E-06
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.810 1.000 6 1992 2017
dbSNP: rs28934897
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.800 1.000 19 1999 2016
dbSNP: rs104895304
rs104895304
MVK
0.827 0.280 12 109591275 missense variant T/C snv 1.5E-04 1.7E-04
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.800 1.000 16 1999 2016
dbSNP: rs104895317
rs104895317
MVK
0.851 0.280 12 109595142 missense variant G/A snv 9.6E-05 6.3E-05
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 1.000 11 1992 2017
dbSNP: rs104895295
rs104895295
MVK ; MMAB
0.925 0.200 12 109574881 missense variant A/C;G snv 4.1E-06; 4.1E-06
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.800 1.000 5 1999 2005
dbSNP: rs104895295
rs104895295
MVK ; MMAB
0.925 0.200 12 109574881 missense variant A/C;G snv 4.1E-06; 4.1E-06
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 1.000 5 1992 2001
dbSNP: rs104895300
rs104895300
MVK
1.000 0.200 12 109581523 missense variant C/T snv 8.0E-06
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.800 1.000 5 1999 2005
dbSNP: rs104895301
rs104895301
MVK
0.851 0.240 12 109586098 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.800 1.000 5 1999 2005
dbSNP: rs104895319
rs104895319
MVK
0.851 0.240 12 109595070 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.800 1.000 5 1999 2005
dbSNP: rs104895382
rs104895382
MVK
0.851 0.240 12 109579921 missense variant T/C snv 3.2E-05 7.0E-05
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.710 1.000 3 2010 2013
dbSNP: rs28934897
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.700 1.000 12 1999 2016
dbSNP: rs104895304
rs104895304
MVK
0.827 0.280 12 109591275 missense variant T/C snv 1.5E-04 1.7E-04
CUI: C1867981
Disease: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 		0.700 1.000 11 1999 2016
dbSNP: rs104895317
rs104895317
MVK
0.851 0.280 12 109595142 missense variant G/A snv 9.6E-05 6.3E-05
CUI: C1867981
Disease: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 		0.700 1.000 7 1997 2017
dbSNP: rs104895317
rs104895317
MVK
0.851 0.280 12 109595142 missense variant G/A snv 9.6E-05 6.3E-05
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 7 1997 2017
dbSNP: rs104895296
rs104895296
MVK
1.000 0.200 12 109576035 missense variant T/C snv
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 5 1999 2005
dbSNP: rs104895297
rs104895297
MVK
0.882 0.360 12 109581427 missense variant C/T snv
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 5 1999 2005
dbSNP: rs104895298
rs104895298
MVK
1.000 0.200 12 109581465 missense variant G/A snv 3.5E-05
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 5 1999 2005
dbSNP: rs104895303
rs104895303
MVK
1.000 0.200 12 109586766 missense variant G/A;T snv 2.0E-05
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 5 1999 2005
dbSNP: rs104895305
rs104895305
MVK
1.000 0.200 12 109595067 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 5 1999 2005
dbSNP: rs104895308
rs104895308
MVK
0.882 0.200 12 109595118 missense variant G/A snv
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 5 1999 2005
dbSNP: rs104895314
rs104895314
MVK
1.000 0.200 12 109590821 missense variant C/T snv
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.700 1.000 5 1992 2001
dbSNP: rs104895315
rs104895315
MVK
1.000 0.200 12 109591262 missense variant C/G;T snv 2.4E-05
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.700 1.000 5 1992 2001
dbSNP: rs104895316
rs104895316
MVK
0.925 0.200 12 109591266 missense variant T/C;G snv
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		0.700 1.000 5 1999 2005