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: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
12 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
dbSNP: rs6461992
rs6461992
HOXA10 ; HOXA11 ; HOXA10-HOXA9
5 1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs761581039
rs761581039
HOXA9 ; HOXA10 ; HOXA10-HOXA9
1 1.000 0.120 7 27174226 missense variant G/C;T snv 1.7E-05; 4.3E-06 0.010 1.000 1 2017 2017