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: rs104894485
rs104894485
4 0.882 0.080 15 73325378 missense variant C/T snv 3.6E-05 7.0E-06 0.800 1.000 4 2004 2012
dbSNP: rs104894488
rs104894488
1 1.000 0.080 15 73324216 missense variant G/A;T snv 2.4E-05 0.800 1.000 4 2004 2012
dbSNP: rs1454748709
rs1454748709
1 1.000 0.080 15 73329709 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 4 2004 2012
dbSNP: rs1057519015
rs1057519015
1 1.000 0.080 15 73325404 frameshift variant G/- delins 0.700 0
dbSNP: rs121908411
rs121908411
1 1.000 0.080 15 73329725 missense variant C/G snv 0.700 0