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: rs797045047
rs797045047
3 1.000 9 137162510 missense variant G/A;C snv 0.800 1.000 8 2011 2017
dbSNP: rs1554770624
rs1554770624
1 1.000 9 137163764 missense variant T/C snv 0.800 1.000 7 2011 2017
dbSNP: rs1554770667
rs1554770667
4 0.882 9 137163845 missense variant C/T snv 0.800 1.000 7 2011 2017
dbSNP: rs1060500046
rs1060500046
1 1.000 9 137162649 missense variant G/A snv 0.800 0
dbSNP: rs1554770054
rs1554770054
1 1.000 9 137162195 missense variant C/A;G snv 0.700 1.000 7 2011 2017
dbSNP: rs387906635
rs387906635
1 1.000 9 137162710 missense variant G/A snv 0.700 1.000 7 2011 2017
dbSNP: rs878853143
rs878853143
2 0.925 0.200 9 137162209 missense variant C/G;T snv 0.700 1.000 7 2011 2017
dbSNP: rs1554770444
rs1554770444
1 1.000 9 137163228 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1554770064
rs1554770064
1 1.000 9 137162216 inframe insertion -/GCA delins 0.700 0
dbSNP: rs1554770185
rs1554770185
1 1.000 9 137162502 inframe insertion -/CATCGG delins 0.700 0
dbSNP: rs1554770262
rs1554770262
1 1.000 9 137162687 missense variant T/G snv 0.700 0
dbSNP: rs1554770589
rs1554770589
1 1.000 9 137163642 missense variant C/A snv 0.700 0
dbSNP: rs1564363665
rs1564363665
1 1.000 9 137162499 missense variant A/G snv 0.700 0
dbSNP: rs781053477
rs781053477
1 1.000 9 137163606 missense variant G/A;T snv 0.700 0
dbSNP: rs797044925
rs797044925
1 1.000 9 137163668 missense variant G/A snv 0.700 0
dbSNP: rs869312865
rs869312865
5 0.827 0.160 9 137156676 missense variant G/A;C snv 0.700 0