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: rs869025570
rs869025570
SETD2
1 1.000 3 47084336 missense variant A/C snv 0.800 0
dbSNP: rs1057523157
rs1057523157
SETD2
3 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0
dbSNP: rs1559720382
rs1559720382
SETD2
2 1.000 3 47101476 missense variant T/C snv 0.700 0
dbSNP: rs869025569
rs869025569
SETD2
1 1.000 3 47057443 frameshift variant T/- delins 0.700 0
dbSNP: rs869025571
rs869025571
SETD2
1 1.000 3 47123816 stop gained G/A snv 0.700 0
dbSNP: rs869025572
rs869025572
SETD2
1 1.000 3 47122608 frameshift variant A/- del 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019