IFT74, intraflagellar transport 74, 80173

N. diseases: 18; N. variants: 5
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: rs747956857
rs747956857 		1.000 9 26946978 missense variant C/A;T snv
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.800 0
dbSNP: rs10812518
rs10812518 		1.000 0.040 9 27041678 intron variant C/T snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs12337896
rs12337896 		1.000 0.040 9 27018022 intron variant A/G snv 0.32
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs1554662408
rs1554662408 		1.000 9 26946977 frameshift variant -/C delins
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 0
dbSNP: rs201148958
rs201148958 		1.000 0.120 9 26978180 missense variant G/A snv 1.8E-04 6.3E-05
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006