IFT57, intraflagellar transport 57, 55081

N. diseases: 31; N. variants: 1
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: rs1560127636
rs1560127636 		1.000 3 108213928 splice region variant T/C snv
CUI: C4693651
Disease: OROFACIODIGITAL SYNDROME XVIII
OROFACIODIGITAL SYNDROME XVIII 		0.700 0