SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
Disease: Dysmorphic features ×
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: rs80338739
rs80338739 		0.925 0.120 X 153690428 inframe deletion CTT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2000 2017