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: rs144478519
rs144478519
IL36RN
0.925 0.120 2 113062547 stop gained C/A;T snv 4.0E-06; 2.9E-03
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.810 1.000 7 2011 2016
dbSNP: rs144478519
rs144478519
IL36RN
0.925 0.120 2 113062547 stop gained C/A;T snv 4.0E-06; 2.9E-03
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2013 2013