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: rs75037667
rs75037667
1 1.000 0.120 19 12813438 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 3 2006 2010
dbSNP: rs76436818
rs76436818
1 1.000 0.120 19 12807328 missense variant C/A;G;T snv 2.4E-05; 1.2E-05 0.800 1.000 3 2006 2010
dbSNP: rs76857106
rs76857106
3 1.000 0.120 19 12806782 missense variant G/A snv 0.800 1.000 3 2006 2010
dbSNP: rs77103971
rs77103971
2 0.925 0.120 19 12810323 missense variant C/T snv 4.0E-06 2.8E-05 0.800 1.000 3 2006 2010
dbSNP: rs79767407
rs79767407
1 1.000 0.120 19 12813135 missense variant C/A snv 0.800 1.000 3 2006 2010
dbSNP: rs549586181
rs549586181
1 1.000 0.120 19 12807209 frameshift variant -/A delins 9.9E-05 4.5E-04 0.700 1.000 1 2013 2013
dbSNP: rs397515479
rs397515479
1 1.000 0.120 19 12806748 synonymous variant C/T snv 0.700 0
dbSNP: rs397515480
rs397515480
1 1.000 0.120 19 12806742 synonymous variant G/A snv 1.7E-05 7.0E-06 0.700 0
dbSNP: rs753679297
rs753679297
1 1.000 0.120 19 12810324 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs75718910
rs75718910
1 1.000 0.120 19 12813149 missense variant G/A snv 1.6E-05 0.700 0
dbSNP: rs77672568
rs77672568
1 1.000 0.120 19 12807212 frameshift variant -/G delins 0.700 0
dbSNP: rs78705193
rs78705193
1 1.000 0.120 19 12813158 frameshift variant -/GC delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs79843600
rs79843600
1 1.000 0.120 19 12813164 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 0