Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs1555366607
SPTB
1.000 0.080 14 64767787 missense variant A/G snv 5
rs886039906
F8
1.000 0.080 X 154929022 frameshift variant -/TTGGTTAT ins 3.3E-05 3