Source: CLINVAR ×
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: rs122445099
rs122445099
ATRX
6 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
dbSNP: rs1565286228
rs1565286228
MYRF
6 0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 0.700 0
dbSNP: rs267602852
rs267602852
WT1
7 0.827 0.160 11 32417631 missense variant G/A snv 0.700 0
dbSNP: rs767978562
rs767978562
FREM2
8 0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0