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: rs121918336
rs121918336
PIKFYVE
1 1.000 0.080 2 208326119 missense variant A/G snv 7.0E-06 0.800 1.000 1 2005 2005
dbSNP: rs780579562
rs780579562
PIKFYVE
1 1.000 0.080 2 208326311 stop gained C/G snv 4.1E-06 0.700 1.000 1 2005 2005
dbSNP: rs121918337
rs121918337
PIKFYVE
1 1.000 0.080 2 208325773 stop gained C/T snv 0.700 0
dbSNP: rs387907335
rs387907335
PIKFYVE
1 1.000 0.080 2 208335329 frameshift variant AGTA/- delins 0.700 0
dbSNP: rs869312464
rs869312464
PIKFYVE
1 1.000 0.080 2 208325957 frameshift variant -/A delins 0.700 0
dbSNP: rs613872
rs613872
TCF4
6 0.851 0.120 18 55543071 intron variant G/T snv 0.88 0.030 0.667 3 2011 2014
dbSNP: rs80358192
rs80358192
COL8A2
6 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.020 1.000 2 2005 2005
dbSNP: rs118020901
rs118020901
ZEB1
2 0.925 0.080 10 31521854 missense variant A/C;G snv 7.4E-03; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121918496
rs121918496
FGFR2
4 0.851 0.120 10 121517377 missense variant G/C snv 0.010 1.000 1 1995 1995
dbSNP: rs2286812
rs2286812
LOC642484 ; LINC01905
2 0.925 0.120 18 56050233 intron variant C/T snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs618869
rs618869
TCF4
1 1.000 0.080 18 55580920 intron variant T/C snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs9954153
rs9954153 		2 0.925 0.120 18 55871026 downstream gene variant T/G snv 0.16 0.010 1.000 1 2014 2014