Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777507
rs587777507
DNMT3A
1.000 0.160 2 25241701 missense variant A/G snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.800 1.000 0 2014 2017
dbSNP: rs587777508
rs587777508
DNMT3A
1.000 0.160 2 25247676 missense variant A/T snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.800 1.000 0 2014 2017
dbSNP: rs587777509
rs587777509
DNMT3A
1.000 0.160 2 25244564 missense variant A/T snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.800 1.000 0 2014 2017
dbSNP: rs587777510
rs587777510
DNMT3A
1.000 0.160 2 25234313 missense variant A/G snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.800 1.000 0 2014 2017
dbSNP: rs750325978
rs750325978
DNMT3A
1.000 0.160 2 25240727 stop gained G/A snv 7.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs757823678
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.810 1.000 0 2014 2019
dbSNP: rs759380437
rs759380437
DNMT3A
0.925 0.200 2 25247685 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs759380437
rs759380437
DNMT3A
0.925 0.200 2 25247685 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs771174392
rs771174392
DNMT3A
0.925 0.200 2 25235779 missense variant T/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs771174392
rs771174392
DNMT3A
0.925 0.200 2 25235779 missense variant T/C snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0