Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7005606
rs7005606
NRG1
0.925 0.080 8 32543983 intron variant T/G snv 0.39
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 2 2014 2016
dbSNP: rs117617821
rs117617821 		0.925 0.080 7 84692873 intergenic variant T/C snv 2.6E-02
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2018 2018
dbSNP: rs12428625
rs12428625 		0.925 0.080 13 86134644 intron variant A/G;T snv
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2018 2018
dbSNP: rs144432435
rs144432435 		0.925 0.080 10 43063942 intergenic variant C/T snv 1.2E-02
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2018 2018
dbSNP: rs16879552
rs16879552
NRG1
0.882 0.080 8 32553698 intron variant C/T snv 0.10
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2009 2009
dbSNP: rs17653445
rs17653445 		0.925 0.080 10 37546726 downstream gene variant A/G snv 0.12
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2018 2018
dbSNP: rs1864400
rs1864400
RET
0.925 0.080 10 43114918 intron variant G/A;T snv 0.83
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2014 2014
dbSNP: rs2435357
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2019 2019
dbSNP: rs2505994
rs2505994 		0.925 0.080 10 43073439 upstream gene variant T/C snv 0.81
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2018 2018
dbSNP: rs2505998
rs2505998
RET
0.925 0.080 10 43075477 upstream gene variant A/G;T snv
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2016 2016
dbSNP: rs2742234
rs2742234
RET
0.925 0.080 10 43117161 intron variant C/T snv 0.77
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2009 2009
dbSNP: rs4519046
rs4519046 		0.925 0.080 10 43379369 downstream gene variant A/G;T snv
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2018 2018
dbSNP: rs4672229
rs4672229
VRK2 ; LOC107984043
0.925 0.080 2 58049145 intron variant C/A;T snv
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2016 2016
dbSNP: rs62472985
rs62472985
LOC101927378
0.925 0.080 7 84567995 intron variant C/G snv 0.10
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2018 2018
dbSNP: rs80227144
rs80227144 		0.925 0.080 7 84720526 regulatory region variant C/A snv 2.6E-02
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2016 2016
dbSNP: rs9282834
rs9282834
RET
0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		0.700 1.000 1 2016 2016