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: rs121917790
rs121917790
MVK
1 1.000 0.200 12 109581517 missense variant C/T snv 0.700 0
dbSNP: rs1566147222
rs1566147222
MVK
3 0.882 0.240 12 109586039 stop gained T/A 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: 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: 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: rs104895322
rs104895322
MVK ; MMAB
3 0.882 0.240 12 109574893 frameshift variant -/T delins 0.700 1.000 2 2003 2006
dbSNP: rs11544299
rs11544299
MVK ; MMAB
1 1.000 0.200 12 109574880 missense variant C/A;T snv 0.700 0
dbSNP: rs4149637
rs4149637
TNFRSF1A
4 0.851 0.320 12 6333835 missense variant G/A;C snv 5.7E-03 0.010 1.000 1 2002 2002