Source: ALL
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: rs587783625
rs587783625
EZH2
1 1.000 0.120 7 148811696 missense variant C/T snv 0.800 1.000 5 2011 2017
dbSNP: rs587783626
rs587783626
EZH2
1 1.000 0.120 7 148809370 missense variant G/A snv 0.800 1.000 5 2011 2017
dbSNP: rs397515547
rs397515547
EZH2
1 1.000 0.120 7 148809376 missense variant C/T snv 0.700 1.000 5 2011 2017
dbSNP: rs397515548
rs397515548
EZH2
1 1.000 0.120 7 148807669 missense variant C/T snv 0.700 1.000 5 2011 2017
dbSNP: rs775407864
rs775407864
EZH2
1 1.000 0.120 7 148846567 missense variant A/G snv 3.6E-05 7.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs797044844
rs797044844
EZH2
1 1.000 0.120 7 148829754 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1060503430
rs1060503430
EZH2
1 1.000 0.120 7 148810372 missense variant C/A snv 0.700 0
dbSNP: rs1131692184
rs1131692184
EZH2
1 1.000 0.120 7 148807689 missense variant G/C;T snv 0.700 0
dbSNP: rs1563181659
rs1563181659
EZH2
1 1.000 0.120 7 148807681 inframe insertion -/TTC delins 0.700 0
dbSNP: rs193921147
rs193921147
EZH2
1 1.000 0.120 7 148809340 missense variant G/A snv 0.700 0
dbSNP: rs193921148
rs193921148
EZH2
1 1.000 0.120 7 148829818 missense variant G/A snv 0.700 0
dbSNP: rs587783627
rs587783627
EZH2
1 1.000 0.120 7 148807666 missense variant T/C snv 0.700 0
dbSNP: rs797045568
rs797045568
EZH2
1 1.000 0.120 7 148809078 frameshift variant -/A delins 0.700 0