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: rs397516411
rs397516411
2 0.925 0.160 7 107661637 splice acceptor variant A/G snv 1.2E-04 2.7E-04 0.700 0
dbSNP: rs1554352234
rs1554352234
2 1.000 0.120 7 107661723 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs539699299
rs539699299
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.700 1.000 12 1998 2017
dbSNP: rs111033205
rs111033205
4 0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06 0.700 0
dbSNP: rs371544695
rs371544695
2 1.000 0.120 7 107661750 stop gained G/C;T snv 2.7E-05 0.700 0
dbSNP: rs1554352676
rs1554352676
2 1.000 0.120 7 107663357 missense variant C/T snv 0.700 1.000 2 2007 2014
dbSNP: rs786204581
rs786204581
3 0.925 0.160 7 107663366 stop gained C/T snv 0.700 0
dbSNP: rs370588279
rs370588279
2 0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05 0.800 1.000 13 1998 2017
dbSNP: rs1057516953
rs1057516953
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs141142414
rs141142414
1 1.000 0.120 7 107663427 missense variant C/A;G;T snv 4.0E-06; 2.0E-05 0.700 1.000 2 2006 2017
dbSNP: rs145254330
rs145254330
2 0.925 0.160 7 107672182 missense variant C/T snv 3.3E-04 1.7E-04 0.800 1.000 12 1998 2017
dbSNP: rs984967571
rs984967571
2 0.925 0.160 7 107672200 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1554354370
rs1554354370
1 1.000 0.120 7 107672228 missense variant C/T snv 0.700 1.000 12 1998 2017
dbSNP: rs121908365
rs121908365
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.700 1.000 4 2002 2017
dbSNP: rs111033199
rs111033199
3 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs760413427
rs760413427
2 0.925 0.160 7 107674187 missense variant A/G snv 8.0E-06 0.700 1.000 12 1998 2017
dbSNP: rs1554354787
rs1554354787
2 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 3 2006 2017
dbSNP: rs542620119
rs542620119
2 0.925 0.160 7 107674302 missense variant G/C snv 9.1E-05 3.5E-05 0.700 1.000 12 1998 2017
dbSNP: rs111033348
rs111033348
3 0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06 0.700 1.000 5 2000 2017
dbSNP: rs111033380
rs111033380
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554355011
rs1554355011
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs111033303
rs111033303
2 0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04 0.800 1.000 12 1998 2017
dbSNP: rs111033242
rs111033242
3 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.700 0
dbSNP: rs80338848
rs80338848
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.800 1.000 12 1998 2017
dbSNP: rs111033256
rs111033256
3 0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 0.800 1.000 17 1998 2019