ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
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: rs199473693
rs199473693 		0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 1.000 6 2010 2015
dbSNP: rs199473693
rs199473693 		0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 4 2010 2017
dbSNP: rs118203985
rs118203985 		0.925 0.080 1 150556974 stop gained T/A;G snv 4.0E-06; 2.0E-05
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs199473693
rs199473693 		0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs368482584
rs368482584 		1.000 1 150557296 stop gained C/T snv 4.5E-05 2.1E-05
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587776927
rs587776927 		1.000 1 150552897 splice acceptor variant G/A snv
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs747160538
rs747160538 		1.000 0.160 1 150558030 frameshift variant G/-;GG delins 4.9E-05
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs794726688
rs794726688 		0.925 0.160 1 150553816 frameshift variant CGTGCATCCCC/- delins
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs794726688
rs794726688 		0.925 0.160 1 150553816 frameshift variant CGTGCATCCCC/- delins
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs794726689
rs794726689 		1.000 1 150553056 frameshift variant C/- delins
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs118203985
rs118203985 		0.925 0.080 1 150556974 stop gained T/A;G snv 4.0E-06; 2.0E-05
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs769194347
rs769194347 		0.925 0.240 1 150556630 missense variant G/A snv 1.2E-05
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs769194347
rs769194347 		0.925 0.240 1 150556630 missense variant G/A snv 1.2E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs778345588
rs778345588 		1.000 0.080 1 150558021 stop gained C/T snv 4.1E-06
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013