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: rs1225471006
rs1225471006
1 1.000 0.080 1 75761173 stop gained -/TAGAATGAGTTAC delins 3.2E-05 2.8E-05 0.700 1.000 2 1984 1991
dbSNP: rs148207467
rs148207467
1 1.000 0.080 1 75761221 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 1994 2014
dbSNP: rs753928772
rs753928772
1 1.000 0.080 1 75762754 stop gained C/A;T snv 3.6E-05 0.700 1.000 2 2010 2014
dbSNP: rs1215335509
rs1215335509
1 1.000 0.080 1 75750514 stop gained G/A;T snv 0.710 1.000 1 2001 2001
dbSNP: rs748110745
rs748110745
1 1.000 0.080 1 75761326 stop gained G/T snv 8.0E-06 7.0E-06 0.700 1.000 1 1994 1994
dbSNP: rs1057516485
rs1057516485
1 1.000 0.080 1 75761135 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057516564
rs1057516564
1 1.000 0.080 1 75761125 stop gained C/T snv 0.700 0
dbSNP: rs1557446524
rs1557446524
1 1.000 0.080 1 75734857 stop gained G/T snv 0.700 0
dbSNP: rs1557457623
rs1557457623
1 1.000 0.080 1 75749504 stop gained GTGACGGAGC/TTTAA delins 0.700 0
dbSNP: rs796051896
rs796051896
1 1.000 0.080 1 75761188 stop gained C/G;T snv 0.700 0
dbSNP: rs875989874
rs875989874
1 1.000 0.080 1 75761187 stop gained -/TAGAATGAGTTAC delins 0.700 0
dbSNP: rs875989875
rs875989875
1 1.000 0.080 1 75728472 stop gained -/GATTTAG delins 0.700 0
dbSNP: rs77931234
rs77931234
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.900 1.000 58 1990 2020
dbSNP: rs121434280
rs121434280
1 1.000 0.080 1 75732724 missense variant T/C snv 5.0E-04 7.1E-04 0.800 1.000 33 1990 2016
dbSNP: rs121434274
rs121434274
1 1.000 0.080 1 75749509 missense variant G/A snv 2.1E-04 1.3E-04 0.800 1.000 26 1990 2015
dbSNP: rs200724875
rs200724875
1 1.000 0.080 1 75745823 missense variant G/A;T snv 1.6E-05 0.800 1.000 25 1990 2018
dbSNP: rs121434278
rs121434278
3 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.810 1.000 21 1990 2015
dbSNP: rs121434281
rs121434281
1 1.000 0.080 1 75749444 missense variant C/T snv 1.6E-05 7.0E-06 0.800 1.000 20 1990 2013
dbSNP: rs747268471
rs747268471
1 1.000 0.080 1 75750529 missense variant G/A snv 2.4E-05 2.8E-05 0.800 1.000 20 1990 2013
dbSNP: rs786204631
rs786204631
1 1.000 0.080 1 75761153 missense variant T/C snv 0.800 1.000 19 1990 2012
dbSNP: rs875989859
rs875989859
1 1.000 0.080 1 75733588 missense variant G/A snv 8.0E-06 0.800 1.000 18 1990 2010
dbSNP: rs121434283
rs121434283
1 1.000 0.080 1 75733603 missense variant C/T snv 1.2E-05 0.800 1.000 17 1990 2007
dbSNP: rs121434275
rs121434275
1 1.000 0.080 1 75761300 missense variant T/C snv 7.0E-06 0.800 1.000 16 1990 2001
dbSNP: rs121434276
rs121434276
1 1.000 0.080 1 75749440 missense variant T/C snv 0.800 1.000 16 1990 2001
dbSNP: rs121434277
rs121434277
1 1.000 0.080 1 75734850 missense variant G/A;T snv 8.0E-06 0.800 1.000 16 1990 2001