TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24
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: rs267606822
rs267606822 		1.000 0.080 14 75639419 missense variant C/G;T snv
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs267606824
rs267606824 		1.000 0.080 14 75633653 missense variant C/T snv
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs267606825
rs267606825 		0.925 0.160 14 75641008 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs199882533
rs199882533 		1.000 14 75764691 stop gained G/A;T snv 2.4E-04
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.800 0
dbSNP: rs11159152
rs11159152 		1.000 0.040 14 75815818 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17103681
rs17103681 		1.000 0.040 14 75801843 intron variant C/G snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17183738
rs17183738 		1.000 0.040 14 75741966 intron variant A/C snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs175886
rs175886 		1.000 0.040 14 75824616 intron variant C/T snv 0.90
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs175888
rs175888 		1.000 0.040 14 75828181 intron variant G/A snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17783198
rs17783198 		1.000 0.040 14 75771660 intron variant G/A snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1863036
rs1863036 		1.000 0.040 14 75793338 intron variant C/G snv 0.66
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2359866
rs2359866 		1.000 0.040 14 75741694 intron variant G/T snv 0.76
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7145487
rs7145487 		1.000 0.040 14 75816471 intron variant G/T snv 0.86
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs724743
rs724743 		14 75663248 intron variant A/G snv 4.3E-03 1.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2011 2011
dbSNP: rs724743
rs724743 		14 75663248 intron variant A/G snv 4.3E-03 1.8E-02
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs72725608
rs72725608 		1.000 0.080 14 75779563 intron variant T/C snv 3.5E-02 2.6E-02
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.700 1.000 1 2019 2019
dbSNP: rs8015701
rs8015701 		1.000 0.040 14 75794794 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs8017398
rs8017398 		1.000 0.040 14 75751132 intron variant C/T snv 0.75
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1555345387
rs1555345387 		1.000 14 75783325 frameshift variant -/A delins
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs1555384338
rs1555384338 		1.000 14 75720648 missense variant A/T snv
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs1566585766
rs1566585766 		1.000 0.080 14 75745582 splice donor variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs587777469
rs587777469 		1.000 14 75764648 frameshift variant AGAG/-;AG delins
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs587777470
rs587777470 		1.000 14 75690221 frameshift variant T/- del 4.0E-06
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs587777471
rs587777471 		1.000 14 75863694 stop gained G/A snv
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs780523767
rs780523767 		1.000 0.080 14 75641062 splice donor variant T/C snv 4.0E-06; 4.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0