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: rs121912993
rs121912993
DSP
1 1.000 0.080 6 7565442 missense variant T/G snv 0.800 0
dbSNP: rs28931610
rs28931610
DSP
1 1.000 0.080 6 7584358 missense variant C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs121912994
rs121912994
DSP
1 1.000 0.080 6 7574786 stop gained T/A snv 0.700 0
dbSNP: rs121912995
rs121912995
DSP
1 1.000 0.080 6 7571928 stop gained C/T snv 0.700 0
dbSNP: rs387906618
rs387906618
DSP
1 1.000 0.080 6 7584359 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs397516955
rs397516955
DSP
9 0.790 0.120 6 7562753 stop gained G/A snv 0.700 0
dbSNP: rs794728137
rs794728137
DSP
6 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 0