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: rs111033220
rs111033220
4 0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04 0.800 1.000 33 1998 2019
dbSNP: rs111033305
rs111033305
4 0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06 0.800 1.000 25 1998 2019
dbSNP: rs28939086
rs28939086
4 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.800 1.000 24 1998 2019
dbSNP: rs201562855
rs201562855
4 0.925 0.160 7 107690148 missense variant A/T snv 4.0E-06 0.800 1.000 19 1998 2019
dbSNP: rs121908361
rs121908361
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.800 1.000 16 1998 2017
dbSNP: rs121908364
rs121908364
3 0.925 0.160 7 107689166 missense variant C/T snv 0.800 1.000 16 1998 2017
dbSNP: rs763006761
rs763006761
3 0.925 0.160 7 107700135 missense variant A/G snv 1.6E-05 0.800 1.000 14 1998 2017
dbSNP: rs1554359670
rs1554359670
2 0.925 0.160 7 107694650 missense variant C/A snv 0.800 1.000 13 1998 2017
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: rs111033212
rs111033212
4 0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 0.800 1.000 12 1998 2017
dbSNP: rs111033318
rs111033318
3 0.925 0.160 7 107702050 missense variant T/A snv 0.800 1.000 12 1998 2017
dbSNP: rs1554354370
rs1554354370
1 1.000 0.120 7 107672228 missense variant C/T snv 0.700 1.000 12 1998 2017
dbSNP: rs397516414
rs397516414
2 0.925 0.160 7 107690178 missense variant G/A snv 0.700 1.000 12 1998 2017
dbSNP: rs539699299
rs539699299
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.700 1.000 12 1998 2017
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: rs121908365
rs121908365
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.700 1.000 4 2002 2017
dbSNP: rs146281367
rs146281367
2 0.925 0.160 7 107683537 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2009 2017
dbSNP: rs1554360358
rs1554360358
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 1.000 4 2007 2014
dbSNP: rs1554354787
rs1554354787
2 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 3 2006 2017
dbSNP: rs1554355011
rs1554355011
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs1060499808
rs1060499808
2 0.925 0.160 7 107704344 missense variant T/C snv 8.9E-06 0.700 1.000 2 2004 2018
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: rs1554352676
rs1554352676
2 1.000 0.120 7 107663357 missense variant C/T snv 0.700 1.000 2 2007 2014
dbSNP: rs749013429
rs749013429
2 1.000 0.120 7 107702030 missense variant C/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 2 2014 2016
dbSNP: rs786204739
rs786204739
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 1.000 2 2007 2017