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: rs1555366607
rs1555366607
SPTB
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs886039906
rs886039906
F8
3 1.000 0.080 X 154929022 frameshift variant -/TTGGTTAT ins 3.3E-05 0.700 0