IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: RETINITIS PIGMENTOSA 71 ×
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: rs786205855
rs786205855 		1.000 2 27446314 missense variant G/T snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.800 0
dbSNP: rs786205856
rs786205856 		1.000 2 27445929 missense variant A/C snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.800 0
dbSNP: rs786205857
rs786205857 		1.000 2 27481061 missense variant A/G snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.800 0
dbSNP: rs1250676888
rs1250676888 		0.925 2 27480124 stop gained G/A snv 4.0E-06
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0
dbSNP: rs370540673
rs370540673 		1.000 2 27471096 splice acceptor variant C/A;T snv 4.2E-06; 8.4E-06
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0
dbSNP: rs750338419
rs750338419 		0.882 0.080 2 27459399 stop gained -/T delins 1.2E-05
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0
dbSNP: rs786205858
rs786205858 		1.000 2 27457760 splice region variant A/T snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0