SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
Disease: Dysmorphic facies ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs769235753
rs769235753 		0.925 0.120 6 73644582 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0