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: rs113994049
rs113994049
4 0.882 0.160 3 184137637 missense variant G/A snv 2.1E-04 2.7E-04 0.710 1.000 1 2011 2011
dbSNP: rs104894425
rs104894425
3 0.882 0.120 14 75005906 missense variant A/G snv 3.2E-05 7.0E-05 0.700 0
dbSNP: rs104894427
rs104894427
1 1.000 0.120 14 75004850 stop gained C/T snv 1.2E-05; 1.2E-05 1.4E-05 0.700 0
dbSNP: rs104894428
rs104894428
2 0.925 0.120 14 75004815 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs113994014
rs113994014
2 0.925 0.120 14 75005875 frameshift variant ATGGCT/TG delins 0.700 0
dbSNP: rs113994038
rs113994038
2 0.925 0.120 2 27364579 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs113994040
rs113994040
2 0.925 0.120 2 27364507 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs113994055
rs113994055
2 0.925 0.120 3 184137974 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs113994060
rs113994060
2 0.925 0.120 3 184140470 missense variant G/A snv 0.010 1.000 1 2011 2011