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: rs137852714
rs137852714
EHMT1
2 0.925 0.280 9 137743418 stop gained C/A;T snv 1.2E-05 0.700 1.000 1 2009 2009
dbSNP: rs137852715
rs137852715
EHMT1
1 1.000 0.280 9 137757919 frameshift variant GGCACCAGGAGAC/- delins 0.700 1.000 1 2006 2006
dbSNP: rs137852716
rs137852716
EHMT1
1 1.000 0.280 9 137762702 frameshift variant AGAC/- delins 0.700 1.000 1 2009 2009
dbSNP: rs786205129
rs786205129
EHMT1
1 1.000 0.280 9 137813008 frameshift variant TTCT/- delins 0.700 1.000 1 2012 2012
dbSNP: rs797045043
rs797045043
EHMT1
1 1.000 0.280 9 137716930 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037776
rs886037776
EHMT1
2 0.925 0.280 9 137817477 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518913
rs1057518913
EHMT1
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs121918301
rs121918301
EHMT1
2 0.925 0.280 9 137818100 stop gained C/T snv 0.700 0
dbSNP: rs137852722
rs137852722
EHMT1
1 1.000 0.280 9 137813005 splice acceptor variant G/A snv 0.700 0
dbSNP: rs137852724
rs137852724
EHMT1
1 1.000 0.280 9 137813531 splice donor variant G/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: rs1429360126
rs1429360126
EHMT1
1 1.000 0.280 9 137813396 stop gained C/A;T snv 0.700 0
dbSNP: rs1554867189
rs1554867189
EHMT1
1 1.000 0.280 9 137757944 frameshift variant GT/- del 0.700 0
dbSNP: rs1554879411
rs1554879411
EHMT1
1 1.000 0.280 9 137777888 frameshift variant -/G delins 0.700 0
dbSNP: rs1554880275
rs1554880275
EHMT1
1 1.000 0.280 9 137779655 frameshift variant -/CCCAAAGCAGCTGTACT delins 0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1554896943
rs1554896943
EHMT1
1 1.000 0.280 9 137814351 splice acceptor variant TGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCT/- del 0.700 0
dbSNP: rs1564509503
rs1564509503
EHMT1 ; ARRDC1-AS1
1 1.000 0.280 9 137619032 splice donor variant GATGCCGAGGTGAGCAGCGGGGCCGGCGGGGGGCGGCGCGGGGGCGGCGGGCAGCGGCGGAGGCGGCGCGGGGGCGAAGAACCGGGCGGGGCGGCGGCAGGCGGCCGGCGGGCGGGCGGGGCCCCGGGTCCCCCCGCCGCCGCCGCCGCCGCTGCCGCCGCC/- delins 0.700 0
dbSNP: rs1564697048
rs1564697048
EHMT1
1 1.000 0.280 9 137754169 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1564704457
rs1564704457
EHMT1
1 1.000 0.280 9 137758005 frameshift variant G/- del 0.700 0
dbSNP: rs1564744631
rs1564744631
EHMT1
1 1.000 0.280 9 137779666 frameshift variant C/- del 0.700 0
dbSNP: rs879255531
rs879255531
EHMT1
5 0.882 0.400 9 137728379 stop gained C/T snv 0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
7 0.827 0.280 9 137815998 missense variant G/A snv 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