SLC30A8, solute carrier family 30 member 8, 169026

N. diseases: 63; N. variants: 23
Disease: Dystrophia myotonica 2 ×
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: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017