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: rs431905486
rs431905486
2 0.925 0.160 7 107683531 frameshift variant -/A delins 0.700 0
dbSNP: rs786204450
rs786204450
1 1.000 0.160 7 107698042 frameshift variant -/C delins 0.700 1.000 7 2003 2013
dbSNP: rs768245266
rs768245266
1 1.000 0.160 7 107683351 frameshift variant -/G delins 1.2E-05 0.700 1.000 1 2007 2007
dbSNP: rs786204730
rs786204730
1 1.000 0.160 7 107672192 frameshift variant -/T delins 0.700 1.000 2 2005 2013
dbSNP: rs1298217152
rs1298217152
1 1.000 0.160 7 107710138 frameshift variant -/TA delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1057516354
rs1057516354
1 1.000 0.160 7 107690212 frameshift variant A/- del 0.700 1.000 1 2008 2008
dbSNP: rs918684449
rs918684449
1 1.000 0.160 7 107675077 frameshift variant A/- delins 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057516634
rs1057516634
1 1.000 0.160 7 107661696 frameshift variant A/- del 2.1E-05 0.700 0
dbSNP: rs1554360358
rs1554360358
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 1.000 5 2010 2015
dbSNP: rs1413121429
rs1413121429
1 1.000 0.160 7 107694619 splice acceptor variant A/C snv 7.0E-06 0.700 0
dbSNP: rs28939086
rs28939086
4 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.810 1.000 21 1997 2013
dbSNP: rs201660407
rs201660407
3 0.925 0.160 7 107690236 missense variant A/C;G snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs121908362
rs121908362
5 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.820 1.000 23 1997 2014
dbSNP: rs763006761
rs763006761
3 0.925 0.160 7 107700135 missense variant A/G snv 1.6E-05 0.800 1.000 23 1997 2017
dbSNP: rs111033316
rs111033316
1 1.000 0.160 7 107696036 missense variant A/G snv 5.6E-05 6.3E-05 0.800 1.000 22 1997 2016
dbSNP: rs111033244
rs111033244
1 1.000 0.160 7 107690125 missense variant A/G snv 1.1E-04 1.5E-04 0.800 1.000 20 1997 2009
dbSNP: rs1442599990
rs1442599990
1 1.000 0.160 7 107672147 missense variant A/G snv 7.0E-06 0.700 1.000 18 1997 2009
dbSNP: rs768471577
rs768471577
2 0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05 0.710 1.000 7 2000 2015
dbSNP: rs142498437
rs142498437
1 1.000 0.160 7 107690212 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 6 2011 2015
dbSNP: rs757820624
rs757820624
2 0.925 0.160 7 107710135 missense variant A/G snv 2.0E-05 2.8E-05 0.700 1.000 6 2004 2015
dbSNP: rs111033313
rs111033313
4 0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04 0.700 1.000 5 1999 2012
dbSNP: rs727505088
rs727505088
1 1.000 0.160 7 107696017 missense variant A/G snv 0.700 1.000 5 2013 2017
dbSNP: rs397516411
rs397516411
2 0.925 0.160 7 107661637 splice acceptor variant A/G snv 1.2E-04 2.7E-04 0.700 1.000 4 2006 2015
dbSNP: rs786204458
rs786204458
1 1.000 0.160 7 107663294 splice acceptor variant A/G snv 0.700 1.000 3 2002 2005
dbSNP: rs111033405
rs111033405
4 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2000 2000