Source: CLINVAR

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: rs5030857
rs5030857
PAH
0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1993 2015
dbSNP: rs62508588
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1993 2015