Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 6