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: rs121908166
rs121908166
1 1.000 0.080 1 110061550 missense variant T/C snv 0.800 1.000 1 2009 2009
dbSNP: rs121908167
rs121908167
1 1.000 0.080 1 110064679 missense variant G/C snv 4.0E-06 0.800 1.000 1 2009 2009
dbSNP: rs121908168
rs121908168
1 1.000 0.080 1 110064634 missense variant G/A snv 8.0E-06 0.800 1.000 1 2009 2009
dbSNP: rs121908170
rs121908170
1 1.000 0.080 1 110064595 missense variant G/A snv 8.0E-06 0.800 1.000 1 2009 2009
dbSNP: rs121908169
rs121908169
1 1.000 0.080 1 110064638 stop gained A/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1553196068
rs1553196068
1 1.000 0.080 1 110061028 frameshift variant AG/- del 0.700 0
dbSNP: rs387906319
rs387906319
1 1.000 0.080 1 110064600 frameshift variant TCAG/- delins 0.700 0
dbSNP: rs1554442016
rs1554442016
4 0.882 0.080 7 19116972 missense variant T/A;C snv 0.010 1.000 1 2017 2017