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
dbSNP: rs796051885
rs796051885 		0.925 14 75963344 missense variant G/A snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 1.000 3 2014 2015
dbSNP: rs1555360883
rs1555360883 		1.000 14 75971719 splice acceptor variant C/G snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 1.000 1 2015 2015
dbSNP: rs1566682530
rs1566682530 		1.000 14 75971256 splice acceptor variant C/G snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 1.000 1 2015 2015
dbSNP: rs1057523647
rs1057523647 		1.000 14 75971629 stop gained G/A snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 0
dbSNP: rs1060502826
rs1060502826 		1.000 14 75963358 frameshift variant CC/- delins
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 0
dbSNP: rs1060502827
rs1060502827 		1.000 14 75960969 stop gained G/A;C snv 4.0E-06
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 0
dbSNP: rs1555360222
rs1555360222 		1.000 14 75961014 stop gained C/T snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 0
dbSNP: rs1555360229
rs1555360229 		0.925 14 75961030 stop gained G/A snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 0
dbSNP: rs587777617
rs587777617 		0.925 14 75963343 missense variant C/T snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.700 0