IFT43, intraflagellar transport 43, 112752

N. diseases: 84; N. variants: 28
Disease: LOEYS-DIETZ SYNDROME 4 ×
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: rs1555360362
rs1555360362 		1.000 14 75963326 frameshift variant A/- delins
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 1.000 4 1992 2015