TLK2, tousled like kinase 2, 11011

N. diseases: 71; 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: rs1283838287
rs1283838287 		1.000 17 62600736 missense variant C/T snv 7.0E-06
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.800 1.000 2 2016 2018
dbSNP: rs1555661506
rs1555661506 		1.000 17 62602067 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1999 2017
dbSNP: rs1555661506
rs1555661506 		1.000 17 62602067 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1999 2017
dbSNP: rs1555639254
rs1555639254 		1.000 17 62565059 missense variant G/A snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 2 2016 2018
dbSNP: rs11657101
rs11657101 		17 62559465 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12949468
rs12949468 		17 62516455 non coding transcript exon variant G/A snv 1.0E-02
CUI: C0023980
Disease: Longevity
Longevity 		0.700 1.000 1 2015 2015
dbSNP: rs138247472
rs138247472 		1.000 17 62565076 stop gained C/A;T snv 1.2E-04 4.1E-04
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs146385050
rs146385050 		17 62559897 intron variant C/A snv 0.13
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1555644480
rs1555644480 		1.000 17 62573235 stop gained C/A snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1567758622
rs1567758622 		1.000 17 62481162 stop gained C/T snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1567844041
rs1567844041 		1.000 17 62522231 stop gained C/T snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1567844114
rs1567844114 		1.000 17 62522252 stop gained G/T snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1567920106
rs1567920106 		1.000 17 62560072 stop gained C/A snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1567920209
rs1567920209 		1.000 17 62560079 stop gained C/T snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1567974030
rs1567974030 		1.000 17 62586178 missense variant A/G snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1567995650
rs1567995650 		1.000 17 62596611 missense variant A/G snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1568003569
rs1568003569 		1.000 17 62600751 stop gained C/T snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1568006217
rs1568006217 		1.000 17 62602140 missense variant G/A snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs1568018905
rs1568018905 		1.000 17 62608042 missense variant C/G snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 1.000 1 2018 2018
dbSNP: rs35127411
rs35127411 		17 62490590 intron variant G/A snv 0.33
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs737037
rs737037 		17 62519936 intron variant A/G snv 0.34
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1331331651
rs1331331651 		1.000 0.080 17 62536325 missense variant C/A snv 8.1E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1555651572
rs1555651572 		1.000 17 62586228 splice donor variant T/G snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 0
dbSNP: rs1555660806
rs1555660806 		1.000 17 62600821 splice donor variant G/T snv
CUI: C4748003
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 		0.700 0
dbSNP: rs2245092
rs2245092 		0.925 0.080 17 62613713 non coding transcript exon variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009