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: rs121918301
rs121918301
EHMT1
2 0.925 0.280 9 137818100 stop gained C/T snv 0.700 0
dbSNP: rs137852714
rs137852714
EHMT1
2 0.925 0.280 9 137743418 stop gained C/A;T snv 1.2E-05 0.700 0
dbSNP: rs137852717
rs137852717
EHMT1
1 1.000 0.160 9 137776636 stop gained C/T snv 0.700 0
dbSNP: rs137852718
rs137852718
EHMT1
1 1.000 0.160 9 137776684 stop gained C/A;T snv 9.9E-05 0.700 0
dbSNP: rs137852720
rs137852720
EHMT1
2 0.925 0.160 9 137779634 splice acceptor variant G/C snv 0.700 0
dbSNP: rs137852721
rs137852721
EHMT1
1 1.000 0.160 9 137811608 frameshift variant GT/- delins 0.700 0
dbSNP: rs137852725
rs137852725
EHMT1
1 1.000 0.160 9 137814479 stop gained C/T snv 0.700 0
dbSNP: rs137852726
rs137852726
EHMT1
2 0.925 0.280 9 137814468 missense variant G/A snv 0.700 0
dbSNP: rs137852727
rs137852727
EHMT1
2 0.925 0.280 9 137834397 missense variant C/T snv 0.700 0
dbSNP: rs1554908290
rs1554908290
EHMT1
1 1.000 0.160 9 137834390 inframe deletion GTCAGCCGGTTC/- delins 0.700 0
dbSNP: rs587780332
rs587780332
EHMT1
2 0.925 0.280 9 137790891 missense variant C/T snv 0.010 1.000 1 2017 2017