TRDN, triadin, 10345

N. diseases: 49; N. variants: 20
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 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: rs11154178
rs11154178 		0.807 0.240 6 123540174 intron variant T/A;C snv
CUI: C4722277
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 		0.700 1.000 1 2017 2017