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: 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 1999 2005
dbSNP: rs104895296
rs104895296
MVK
1 1.000 0.200 12 109576035 missense variant T/C snv 0.700 1.000 5 1999 2005
dbSNP: rs104895298
rs104895298
MVK
1 1.000 0.200 12 109581465 missense variant G/A snv 3.5E-05 0.700 1.000 5 1999 2005
dbSNP: rs104895300
rs104895300
MVK
1 1.000 0.200 12 109581523 missense variant C/T snv 8.0E-06 0.800 1.000 5 1999 2005
dbSNP: rs104895303
rs104895303
MVK
1 1.000 0.200 12 109586766 missense variant G/A;T snv 2.0E-05 0.700 1.000 5 1999 2005
dbSNP: rs104895305
rs104895305
MVK
1 1.000 0.200 12 109595067 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 5 1999 2005
dbSNP: rs104895308
rs104895308
MVK
3 0.882 0.200 12 109595118 missense variant G/A snv 0.700 1.000 5 1999 2005
dbSNP: rs104895316
rs104895316
MVK
2 0.925 0.200 12 109591266 missense variant T/C;G snv 0.700 1.000 5 1999 2005
dbSNP: rs104895325
rs104895325
MVK
1 1.000 0.200 12 109586754 missense variant G/A;C snv 0.700 1.000 5 1999 2005
dbSNP: rs104895335
rs104895335
MVK ; MMAB
1 1.000 0.200 12 109574882 missense variant T/A;C snv 8.2E-06 0.700 1.000 5 1999 2005
dbSNP: rs104895336
rs104895336
MVK
1 1.000 0.200 12 109581417 missense variant G/A snv 3.6E-05 4.9E-05 0.700 1.000 5 1999 2005
dbSNP: rs104895337
rs104895337
MVK
1 1.000 0.200 12 109581534 missense variant G/A snv 1.6E-05 0.700 1.000 5 1999 2005
dbSNP: rs104895339
rs104895339
MVK
1 1.000 0.200 12 109590841 missense variant G/A;C snv 2.4E-05 0.700 1.000 5 1999 2005
dbSNP: rs104895340
rs104895340
MVK
1 1.000 0.200 12 109596513 missense variant G/A;T snv 4.0E-06 0.700 1.000 5 1999 2005
dbSNP: rs763106439
rs763106439
MVK
1 1.000 0.200 12 109591257 missense variant C/T snv 4.0E-06 1.0E-04 0.010 1.000 1 2015 2015
dbSNP: rs104895323
rs104895323
MVK
1 1.000 0.200 12 109581441 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs11544299
rs11544299
MVK ; MMAB
1 1.000 0.200 12 109574880 missense variant C/A;T snv 0.700 0
dbSNP: rs121917790
rs121917790
MVK
1 1.000 0.200 12 109581517 missense variant C/T snv 0.700 0
dbSNP: rs747116992
rs747116992
MVK
1 1.000 0.200 12 109581472 missense variant C/T snv 8.0E-06; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs104895301
rs104895301
MVK
4 0.851 0.240 12 109586098 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 5 1999 2005
dbSNP: rs104895319
rs104895319
MVK
4 0.851 0.240 12 109595070 missense variant G/A snv 2.0E-05 7.0E-06 0.800 1.000 5 1999 2005
dbSNP: rs104895382
rs104895382
MVK
4 0.851 0.240 12 109579921 missense variant T/C snv 3.2E-05 7.0E-05 0.700 1.000 3 2010 2013
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: rs104895321
rs104895321
MVK
4 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014