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: rs17450122
rs17450122
ASCL1
12 102960616 upstream gene variant A/C;G;T snv
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs17450122
rs17450122
ASCL1
12 102960616 upstream gene variant A/C;G;T snv
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		0.700 1.000 1 2019 2019
dbSNP: rs267606667
rs267606667
ASCL1 ; PAH
1.000 0.120 12 102958296 missense variant C/A snv
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 0