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: rs201249971
rs201249971
LIPH
8 0.776 0.120 3 185519292 missense variant A/T snv 1.6E-04 4.9E-05 0.700 1.000 3 2009 2015
dbSNP: rs267607219
rs267607219
LIPH
2 0.925 0.080 3 185534860 missense variant A/G snv 8.0E-06 0.700 1.000 3 2006 2009
dbSNP: rs559648418
rs559648418
LIPH
2 0.925 0.080 3 185524129 frameshift variant AT/- delins 8.0E-05 2.8E-05 0.700 0
dbSNP: rs767724665
rs767724665
DSG4 ; DSG1-AS1
2 0.925 0.120 18 31392303 missense variant A/G snv 8.0E-06 0.010 1.000 1 2015 2015