Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104895304
rs104895304
MVK
5 0.827 0.280 12 109591275 missense variant T/C snv 1.5E-04 1.7E-04 0.810 1.000 16 1992 2017
dbSNP: rs104895319
rs104895319
MVK
4 0.851 0.240 12 109595070 missense variant G/A snv 2.0E-05 7.0E-06 0.810 1.000 6 1992 2010
dbSNP: rs121917789
rs121917789
MVK
2 0.925 0.200 12 109595044 missense variant A/C;G snv 4.0E-06 0.810 1.000 6 1992 2017
dbSNP: rs104895317
rs104895317
MVK
4 0.851 0.280 12 109595142 missense variant G/A snv 9.6E-05 6.3E-05 0.800 1.000 11 1992 2017
dbSNP: rs104895295
rs104895295
MVK ; MMAB
2 0.925 0.200 12 109574881 missense variant A/C;G snv 4.1E-06; 4.1E-06 0.800 1.000 5 1992 2001
dbSNP: rs104895382
rs104895382
MVK
4 0.851 0.240 12 109579921 missense variant T/C snv 3.2E-05 7.0E-05 0.710 1.000 3 2010 2013
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.700 1.000 12 1999 2016
dbSNP: rs104895314
rs104895314
MVK
1 1.000 0.200 12 109590821 missense variant C/T snv 0.700 1.000 5 1992 2001
dbSNP: rs104895315
rs104895315
MVK
1 1.000 0.200 12 109591262 missense variant C/G;T snv 2.4E-05 0.700 1.000 5 1992 2001
dbSNP: rs104895316
rs104895316
MVK
2 0.925 0.200 12 109591266 missense variant T/C;G snv 0.700 1.000 5 1992 2001
dbSNP: rs104895322
rs104895322
MVK ; MMAB
3 0.882 0.240 12 109574893 frameshift variant -/T delins 0.700 1.000 2 2003 2006
dbSNP: rs104895352
rs104895352
MVK
3 0.882 0.240 12 109591302 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 2 2000 2006
dbSNP: rs104895301
rs104895301
MVK
4 0.851 0.240 12 109586098 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs104895324
rs104895324
MVK
3 0.882 0.240 12 109596525 missense variant A/G snv 3.6E-05 4.9E-05 0.700 0
dbSNP: rs104895332
rs104895332
MVK
3 0.882 0.240 12 109586102 missense variant T/C snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs104895334
rs104895334
MVK ; MMAB
1 1.000 0.200 12 109574838 frameshift variant CTACTGGTGTCTGCTCCGG/- del 0.700 0
dbSNP: rs104895373
rs104895373
MVK
2 0.925 0.240 12 109581434 frameshift variant -/C delins 0.700 0
dbSNP: rs1295630463
rs1295630463
MVK
1 1.000 0.200 12 109590865 splice region variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1566147222
rs1566147222
MVK
3 0.882 0.240 12 109586039 stop gained T/A snv 0.700 0
dbSNP: rs104895308
rs104895308
MVK
3 0.882 0.200 12 109595118 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs11614976
rs11614976
MVK
2 0.925 0.200 12 109595145 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs138258349
rs138258349
DNAH8
2 0.925 0.200 6 38737215 missense variant T/C snv 6.4E-05 3.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs144069312
rs144069312
MVK ; MMAB
2 0.925 0.200 12 109574893 missense variant A/C snv 4.1E-06; 4.1E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs148576029
rs148576029
MVK
2 0.925 0.200 12 109590850 missense variant A/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs185313167
rs185313167
SQSTM1
2 0.925 0.200 5 179833083 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017