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: rs200780796
rs200780796
DSTYK
1 1.000 0.080 1 205211450 missense variant C/T snv 1.0E-03 6.6E-04 0.700 1.000 1 2013 2013
dbSNP: rs778586547
rs778586547
DSTYK
1 1.000 0.080 1 205148279 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs879255515
rs879255515
DSTYK
1 1.000 0.080 1 205211512 stop gained C/T snv 0.700 0