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: rs6554199
rs6554199
KIT
0.925 0.040 4 54656321 upstream gene variant G/T snv 0.54
CUI: C1321756
Disease: Achalasia
Achalasia 		0.020 0.500 2 2012 2012
dbSNP: rs1799724
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02
CUI: C1321756
Disease: Achalasia
Achalasia 		0.010 1.000 1 2014 2014
dbSNP: rs2237025
rs2237025
KIT
0.882 0.080 4 54675713 intron variant T/C snv 0.60
CUI: C1321756
Disease: Achalasia
Achalasia 		0.010 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1321756
Disease: Achalasia
Achalasia 		0.010 1.000 1 2007 2007
dbSNP: rs765613977
rs765613977
AAAS
0.882 0.080 12 53321465 start lost T/C snv 4.0E-06 7.0E-06
CUI: C1321756
Disease: Achalasia
Achalasia 		0.010 1.000 1 2018 2018