RAB11B, RAB11B, member RAS oncogene family, 9230

N. diseases: 55; 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: rs2967605
rs2967605 		0.925 0.040 19 8404854 downstream gene variant C/T snv 0.20
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2009 2018
dbSNP: rs1555690779
rs1555690779 		1.000 19 8399886 missense variant G/A snv
CUI: C4540498
Disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		0.800 1.000 1 2017 2017
dbSNP: rs1555690804
rs1555690804 		1.000 19 8400024 missense variant G/A snv
CUI: C4540498
Disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		0.800 1.000 1 2017 2017
dbSNP: rs149183129
rs149183129 		19 8388621 intron variant TTTTT/-;TTTTTT;TTTTTTT delins
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs2241588
rs2241588 		19 8403601 3 prime UTR variant C/T snv 0.20 0.14
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2967605
rs2967605 		0.925 0.040 19 8404854 downstream gene variant C/T snv 0.20
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2967605
rs2967605 		0.925 0.040 19 8404854 downstream gene variant C/T snv 0.20
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2967605
rs2967605 		0.925 0.040 19 8404854 downstream gene variant C/T snv 0.20
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018