Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 10
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 6
rs1057518844
CREBBP
1.000 0.040 16 3757288 missense variant C/T snv 2