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: rs281865084
rs281865084
HPS1
2 0.925 0.200 10 98425687 frameshift variant G/- delins 7.2E-05 1.2E-04 0.700 1.000 6 1998 2016
dbSNP: rs121908385
rs121908385
HPS1
2 0.925 0.200 10 98417671 stop gained C/A;T snv 8.0E-06 0.700 0
dbSNP: rs121908386
rs121908386
HPS1
2 0.925 0.200 10 98435273 stop gained C/A;T snv 3.6E-05 0.700 0
dbSNP: rs281865077
rs281865077
HPS1
2 0.925 0.200 10 98435267 splice region variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs281865081
rs281865081
HPS1
2 0.925 0.200 10 98427240 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs281865082
rs281865082
HPS1
2 0.925 0.200 10 98427230 frameshift variant G/-;GG delins 1.3E-04 0.700 0
dbSNP: rs281865163
rs281865163
HPS1
2 0.925 0.200 10 98423797 frameshift variant -/CTCCCCTGCTGGGGGC delins 2.8E-05 3.6E-04 0.700 0
dbSNP: rs727502866
rs727502866
DTNBP1
2 0.925 0.200 6 15637789 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs773323079
rs773323079
HPS1
1 1.000 0.200 10 98435648 frameshift variant ACAGGAAGTT/- delins 4.0E-06 0.700 0