IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: RETINITIS PIGMENTOSA 80 ×
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: rs1441549097
rs1441549097 		1.000 16 1587222 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs145549969
rs145549969 		1.000 16 1525280 missense variant A/G snv 7.0E-06
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs387907192
rs387907192 		0.925 0.160 16 1564074 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs559371453
rs559371453 		1.000 16 1511137 missense variant A/G snv 8.7E-06 1.4E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs758052634
rs758052634 		1.000 16 1580832 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 0
dbSNP: rs1555491448
rs1555491448 		0.925 0.160 16 1584257 missense variant A/G snv
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs767213195
rs767213195 		1.000 16 1526044 missense variant G/A snv 1.4E-05 2.8E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs772757427
rs772757427 		1.000 16 1602527 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs781117803
rs781117803 		1.000 16 1564075 missense variant G/A;C snv 8.0E-06
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs1555487977
rs1555487977 		1.000 16 1566161 frameshift variant TATT/- delins
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0
dbSNP: rs200065348
rs200065348 		1.000 16 1520178 missense variant C/T snv 4.0E-06
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0
dbSNP: rs200292484
rs200292484 		1.000 16 1586264 missense variant C/T snv 7.2E-05 5.6E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0
dbSNP: rs376586707
rs376586707 		0.925 0.160 16 1557934 splice donor variant C/A snv 5.6E-05 5.6E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0
dbSNP: rs745576178
rs745576178 		1.000 16 1524860 missense variant G/A snv 8.0E-06; 4.0E-06 7.0E-06
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0
dbSNP: rs751323480
rs751323480 		1.000 16 1557966 missense variant C/G;T snv 2.0E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0
dbSNP: rs770890983
rs770890983 		1.000 16 1584324 missense variant C/G snv 1.2E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0
dbSNP: rs773372123
rs773372123 		0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 0