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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA4, ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, DOCK9, FOXE3, GPR98, GSN, IL1RN, ITGB1, KERA, KRT24, KRT3, LRRN1, LTBP2, MYLK, PIK3CG, PIK3R1, PRDM5, PXDN, SFTPD, SLC4A11, TGFBI, VSX1, WNT9B, ZNF469,

+ Genes associated with diseases 25

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, FOXE3, GSN, IL1RN, KERA, KRT3, LTBP2, MYLK, PIK3R1, PRDM5, PXDN, SLC4A11, TGFBI, VSX1, ZNF469,

ABCA4	Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3)
ABCC6	Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
COL4A3	Alport syndrome 2, autosomal recessive, 203780 (3) Alport syndrome 3, autosomal dominant, 104200 (3) Hematuria, benign familial, 141200 (3)
COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
COL5A1	Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
FOXE3	Anterior segment dysgenesis 2, multiple subtypes, 610256 (3) Cataract 34, multiple types, 612968 (3) {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
GSN	Amyloidosis, Finnish type, 105120 (3)
IL1RN	{Gastric cancer risk after H. pylori infection}, 137215 (3) {Microvascular complications of diabetes 4}, 612628 (3) Interleukin 1 receptor antagonist deficiency, 612852 (3)
KERA	Cornea plana 2, autosomal recessive, 217300 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MYLK	Aortic aneurysm, familial thoracic 7, 613780 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PRDM5	Brittle cornea syndrome 2, 614170 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) Corneal endothelial dystrophy and perceptive deafness, 217400 (3) Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TGFBI	Corneal dystrophy, Avellino type, 607541 (3) Corneal dystrophy, Groenouw type I, 121900 (3) Corneal dystrophy, Reis-Bucklers type, 608470 (3) Corneal dystrophy, Thiel-Behnke type, 602082 (3) Corneal dystrophy, epithelial basement membrane, 121820 (3) Corneal dystrophy, lattice type I, 122200 (3) Corneal dystrophy, lattice type IIIA, 608471 (3)
VSX1	Keratoconus 1, 148300 (3) ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, FOXE3, GSN, IL1RN, KERA, KRT3, LTBP2, MYLK, PIK3R1, PRDM5, PXDN, SLC4A11, TGFBI, VSX1, ZNF469,

ABCA4	Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus
ABCC6	Pseudoxanthoma elasticum
ADAMTS18	Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive
AGBL1	Corneal dystrophy, Fuchs endothelial, 8
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly
COL4A2	Hemorrhage, intracerebral, susceptibility to
COL4A3	Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive
COL4A4	Alport syndrome, autosomal recessive
COL5A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
FOXE3	Aphakia, congenital primary Anterior segment mesenchymal dysgenesis
GSN	Amyloidosis, Finnish type
IL1RN	Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KERA	Cornea plana 2, autosomal recessive
KRT3	Meesmann corneal dystrophy
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MYLK	Aortic aneurysm, familial thoracic 7
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PRDM5	Brittle cornea syndrome 2
PXDN	Corneal opacification with other ocular anomalies
SLC4A11	Cryohydrocytosis
TGFBI	Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane
VSX1	Craniofacial anomalies and anterior segment dysgenesis syndrome Keratoconus 1 Corneal dystrophy, posterior polymorphous
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 291
Number of Genes: 33

Export to: CSV

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Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	1	rs66899567 dbSNP Clinvar	36565175	100.0	G	A	PASS	0/1	25	None	None	None	0.15595	0.15600					None None	None None None None	COL8A2\|0.188633378\|37.99%
KERA
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	12	rs2735333 dbSNP Clinvar	91449990	100.0	C	T	PASS	0/1	72	SYNONYMOUS_CODING	LOW	None	0.62001	0.62000	0.36689				None None	None None None None	KERA\|0.287600325\|28.54%
KRT3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	12	rs749273979 dbSNP Clinvar	53188074	100.0	C	G	PASS	0/1	67	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	KRT3\|0.041114774\|65.41%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	12	rs12312467 dbSNP Clinvar	53184725	100.0	G	A	PASS	0/1	100	None	None	None	0.18810	0.18810	0.04468				None None	None None None None	KRT3\|0.041114774\|65.41%
	View	12107_s6	2	rs7588627 dbSNP Clinvar	1665975	100.0	G	C	PASS	0/1	137	None	None	None	0.10643	0.10640	0.07003				None None	None None None None	PXDN\|0.054174855\|61.43%
PXDN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	2	rs3811613 dbSNP Clinvar	1652660	100.0	G	A	PASS	0/1	57	SYNONYMOUS_CODING	LOW	None	0.24481	0.24480	0.25024				None None	None None None None	PXDN\|0.054174855\|61.43%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	2	rs11685976 dbSNP Clinvar	1651842	100.0	C	A	PASS	0/1	20	None	None	None	0.24481	0.24480					None None	None None None None	PXDN\|0.054174855\|61.43%
	View	12107_s6	2	rs117207020 dbSNP Clinvar	1639299	100.0	G	A	PASS	0/1	29	None	None	None	0.01458	0.01458	0.00025				None None	None None None None	PXDN\|0.054174855\|61.43%
	View	12107_s6	1	rs1518111 dbSNP Clinvar	206944645	100.0	T	C	PASS	0/1	27	None	None	None	0.57308	0.57310	0.26741				None None	None None None None	IL10\|0.653335058\|9.97%
	View	12107_s6	1	rs1554286 dbSNP Clinvar	206944233	100.0	A	G	PASS	0/1	18	None	None	None	0.59185	0.59190	0.24912				None None	None None None None	IL10\|0.653335058\|9.97%
	View	12107_s6	1	rs2297634 dbSNP Clinvar	94576968	100.0	T	C	PASS	0/1	27	None	None	None	0.54693	0.54690	0.47309				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs4847278 dbSNP Clinvar	94568491	100.0	A	G	PASS	0/1	81	None	None	None	0.34046	0.34050					None None	None None None None	ABCA4\|0.440503373\|18.63%
ABCA4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	1	rs6657239 dbSNP Clinvar	94564483	100.0	C	T	PASS	0/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.05331	0.05331	0.04644	0.04	0.98		None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs4147831 dbSNP Clinvar	94544233	100.0	G	A	PASS	0/1	19	SYNONYMOUS_CODING	LOW	None	0.11462	0.11460	0.09457				None None	None None None None	ABCA4\|0.440503373\|18.63%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	1	rs4147833 dbSNP Clinvar	94528363	100.0	C	T	PASS	0/1	47	None	None	None	0.37360	0.37360					None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs76305791 dbSNP Clinvar	94512654	100.0	G	A	PASS	0/1	68	None	None	None	0.00200	0.00200					None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs6675679 dbSNP Clinvar	94508192	100.0	A	T	PASS	0/1	83	None	None	None	0.02676	0.02676					None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs472908 dbSNP Clinvar	94487354	100.0	G	A	PASS	0/1	81	None	None	None	0.58886	0.58890	0.36977				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs537831 dbSNP Clinvar	94476555	100.0	G	A	PASS	0/1	101	None	None	None	0.69149	0.69150					None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs1800717 dbSNP Clinvar	94461754	100.0	A	G	PASS	0/1	21	None	None	None	0.14856	0.14860	0.16815				None None	None None None None	ABCA4\|0.440503373\|18.63%
ABCA4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	1	rs6666652 dbSNP Clinvar	94461717	100.0	C	A	PASS	0/1	21	NON_SYNONYMOUS_CODING	MODERATE	None	0.17692	0.17690	0.19260	0.05	0.00		None None	None None None None	ABCA4\|0.440503373\|18.63%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	1	rs6666559 dbSNP Clinvar	94461637	100.0	C	G	PASS	0/1	21	None	None	None	0.14796	0.14800	0.16754				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12107_s6	1	rs6666370 dbSNP Clinvar	47883019	100.0	T	C	PASS	0/1	64	None	None	None	0.79693	0.79690					None None	None None None None	FOXE3\|0.032576489\|68.36%
FOXE3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	1	rs34082359 dbSNP Clinvar	47882497	100.0	C	T	PASS	0/1	18	SYNONYMOUS_CODING	LOW	None	0.27855	0.27860	0.31318				None None	None None None None	FOXE3\|0.032576489\|68.36%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	1	rs274754 dbSNP Clinvar	36565617	100.0	G	A	PASS	0/1	81	None	None	None	0.48263	0.48260	0.34707				None None	None None None None	COL8A2\|0.188633378\|37.99%
	View	12107_s6	12	rs28776777 dbSNP Clinvar	91450082	100.0	C	A	PASS	0/1	61	None	None	None	0.13938	0.13940	0.08139				None None	None None None None	KERA\|0.287600325\|28.54%
	View	12107_s6	10	rs813944 dbSNP Clinvar	105805497	100.0	C	T	PASS	0/1	44	None	None	None	0.43610	0.43610	0.43242				None None	None None None None	COL17A1\|0.220252717\|34.39%
COL17A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	10	rs17116350 dbSNP Clinvar	105793750	100.0	T	C	PASS	0/1	77	NON_SYNONYMOUS_CODING	MODERATE	None	0.25859	0.25860	0.29025	1.00	0.00		None None	None None None None	COL17A1\|0.220252717\|34.39%
SFTPD
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	10	rs721917 dbSNP Clinvar	81706324	100.0	A	G	PASS	0/1	116	NON_SYNONYMOUS_CODING	MODERATE	None	0.50459	0.50460	0.41358	0.32	0.00		None None	None None None None	SFTPD\|0.023000884\|72.72%
	View	12107_s6	10	rs2243639 dbSNP Clinvar	81701722	100.0	T	C	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.77037	0.77040	0.28395	1.00	0.00		None None	None None None None	SFTPD\|0.023000884\|72.72%
ITGB1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	10	rs147320657 dbSNP Clinvar	33208944	100.0	C	T	PASS	0/1	23	SYNONYMOUS_CODING	LOW	None	0.00359	0.00359					None None	None None None None	ITGB1\|0.816912657\|5.38%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	10	rs4587680 dbSNP Clinvar	33200782	100.0	C	T	PASS	0/1	26	None	None	None	0.10523	0.10520	0.07466				None None	None None None None	ITGB1\|0.816912657\|5.38%
ITGB1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	10	rs2298139 dbSNP Clinvar	33200468	100.0	G	A	PASS	0/1	20	SYNONYMOUS_CODING	LOW	None	0.11921	0.11920	0.05085				None None	None None None None	ITGB1\|0.816912657\|5.38%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	10	rs80132666 dbSNP Clinvar	33196108	100.0	GA	G	PASS	0/1	18	None	None	None	0.12340	0.12340	0.07186				None None	None None None None	ITGB1\|0.816912657\|5.38%
	View	12107_s6	9	rs9697186 dbSNP Clinvar	137714027	100.0	T	C	PASS	0/1	19	None	None	None	0.60943	0.60940	0.33277				None None	None None None None	COL5A1\|0.207487878\|35.85%
COL5A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs2228560 dbSNP Clinvar	137711997	100.0	G	C	PASS	0/1	22	SYNONYMOUS_CODING	LOW	None	0.01937	0.01937	0.42519				None None	None None None None	COL5A1\|0.207487878\|35.85%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs10745388 dbSNP Clinvar	137710961	100.0	G	A	PASS	0/1	42	None	None	None	0.45547	0.45550	0.48817				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs11792894 dbSNP Clinvar	137709780	100.0	T	C	PASS	0/1	59	None	None	None	0.58227	0.58230					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3811149 dbSNP Clinvar	137708803	100.0	A	G	PASS	0/1	57	None	None	None	0.59225	0.59230	0.35545				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs45556931 dbSNP Clinvar	137704433	100.0	G	A	PASS	0/1	61	None	None	None	0.10523	0.10520	0.11387				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs45629034 dbSNP Clinvar	137704414	100.0	G	A	PASS	0/1	62	None	None	None	0.10503	0.10500	0.11379				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3827849 dbSNP Clinvar	137702209	100.0	G	A	PASS	0/1	70	None	None	None	0.43411	0.43410	0.49408				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3827850 dbSNP Clinvar	137702200	100.0	G	C	PASS	0/1	69	None	None	None	0.45288	0.45290	0.48698				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3811152 dbSNP Clinvar	137702059	100.0	G	C	PASS	0/1	68	None	None	None	0.24720	0.24720	0.23835				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs11103535 dbSNP Clinvar	137700999	100.0	G	A	PASS	0/1	24	None	None	None	0.10683	0.10680	0.07759				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs142676375,rs368760930 dbSNP Clinvar	137688780	100.0	GC...	G	PASS	0/1	26	None	None	None	0.45747	0.45750	0.35123				None None	None None None None	COL5A1\|0.207487878\|35.85%
COL5A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs78511105 dbSNP Clinvar	137688741	100.0	C	T	PASS	0/1	30	SYNONYMOUS_CODING	LOW	None	0.04153	0.04153	0.03160				None None	None None None None	COL5A1\|0.207487878\|35.85%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs3811160 dbSNP Clinvar	137688624	100.0	A	G	PASS	0/1	30	None	None	None	0.59685	0.59680	0.44788				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs76855839 dbSNP Clinvar	137687183	100.0	C	T	PASS	0/1	27	None	None	None	0.04153	0.04153	0.03137				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs4072882 dbSNP Clinvar	137687038	100.0	A	G	PASS	0/1	99	None	None	None	0.69389	0.69390	0.34385				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs4072883 dbSNP Clinvar	137686906	100.0	C	T	PASS	0/1	71	None	None	None	0.69169	0.69170	0.34015				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs7040856 dbSNP Clinvar	137655430	100.0	C	T	PASS	0/1	18	None	None	None	0.20986	0.20990					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs10858278 dbSNP Clinvar	137653736	100.0	C	A	PASS	0/1	49	None	None	None	0.21006	0.21010	0.12264				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs11103508 dbSNP Clinvar	137653717	100.0	A	C	PASS	0/1	47	None	None	None	0.20947	0.20950	0.10885				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs11103502 dbSNP Clinvar	137646217	100.0	G	A	PASS	0/1	36	None	None	None	0.15955	0.15950	0.15024				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs73558067 dbSNP Clinvar	137645662	100.0	C	T	PASS	0/1	58	None	None	None	0.20907	0.20910	0.20978				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	.	137645648	100.0	TC	CT	PASS	0/1	58	None	None	None							None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs12686426 dbSNP Clinvar	137642577	100.0	T	C	PASS	0/1	40	None	None	None	0.21026	0.21030					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs12685946 dbSNP Clinvar	137642478	100.0	A	G	PASS	0/1	126	None	None	None	0.29952	0.29950	0.31040				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3128612 dbSNP Clinvar	137630587	100.0	T	C	PASS	0/1	34	None	None	None	0.56929	0.56930	0.40866				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3109677 dbSNP Clinvar	137630568	100.0	C	T	PASS	0/1	34	None	None	None	0.56829	0.56830	0.40850				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs75398357 dbSNP Clinvar	137630560	100.0	T	C	PASS	0/1	34	None	None	None	0.01558	0.01558	0.00092				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3128598 dbSNP Clinvar	137622039	100.0	G	A	PASS	0/1	59	None	None	None	0.40875	0.40870	0.37098				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3124308 dbSNP Clinvar	137622033	100.0	A	G	PASS	0/1	60	None	None	None	0.40815	0.40810	0.37142				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs3124302 dbSNP Clinvar	137620474	100.0	C	T	PASS	0/1	39	None	None	None	0.40895	0.40890	0.37137				None None	None None None None	COL5A1\|0.207487878\|35.85%
COL5A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs3124299 dbSNP Clinvar	137619195	100.0	C	T	PASS	0/1	24	SYNONYMOUS_CODING	LOW	None	0.34265	0.34270	0.33215				None None	None None None None	COL5A1\|0.207487878\|35.85%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs3124298 dbSNP Clinvar	137618970	100.0	G	A	PASS	0/1	80	None	None	None	0.37660	0.37660					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12107_s6	9	rs4341231 dbSNP Clinvar	137592961	100.0	T	C	PASS	0/1	58	None	None	None	0.62380	0.62380					None None	None None None None	COL5A1\|0.207487878\|35.85%
GSN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs9102 dbSNP Clinvar	124094800	100.0	T	C	PASS	0/1	37	SYNONYMOUS_CODING	LOW	None	0.12440	0.12440	0.05413				None None	None None None None	GSN\|0.728577212\|7.7%
	View	12107_s6	9	rs2289070 dbSNP Clinvar	124093762	100.0	T	C	PASS	0/1	18	None	None	None	0.12440	0.12440	0.04976	0.25	0.00		None None	None None None None	GSN\|0.728577212\|7.7%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs2289069 dbSNP Clinvar	124088731	100.0	A	G	PASS	0/1	31	None	None	None	0.11322	0.11320					None None	None None None None	GSN\|0.728577212\|7.7%
	View	12107_s6	9	rs1030142600 dbSNP Clinvar	124088705	100.0	G	A	PASS	0/1	31	None	None	None							None None	None None None None	GSN\|0.728577212\|7.7%
	View	12107_s6	9	rs189497483 dbSNP Clinvar	124072901	100.0	T	C	PASS	0/1	67	None	None	None	0.00100	0.00100					None None	None None None None	GSN\|0.728577212\|7.7%
GSN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs2230287 dbSNP Clinvar	124065224	100.0	G	A	PASS	0/1	35	NON_SYNONYMOUS_CODING	MODERATE	None	0.08327	0.08327	0.01476	0.00	1.00		None None	None None None None	GSN\|0.728577212\|7.7%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	9	rs12343736 dbSNP Clinvar	124048461	100.0	T	C	PASS	0/1	23	None	None	None	0.10683	0.10680					None None	None None None None	GSN\|0.728577212\|7.7%
PIK3CG
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	7	rs1129293 dbSNP Clinvar	106513011	100.0	C	T	PASS	0/1	159	SYNONYMOUS_CODING	LOW	None	0.25379	0.25380	0.23889				None None	None None None None	PIK3CG\|0.990082262\|1.08%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	7	rs13229035 dbSNP Clinvar	20739839	100.0	A	C	PASS	0/1	121	None	None	None	0.11881	0.11880					None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	12107_s6	7	rs12700230 dbSNP Clinvar	20739672	100.0	G	A	PASS	0/1	23	None	None	None	0.11542	0.11540	0.17003				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	12107_s6	7	rs11762180 dbSNP Clinvar	20739632	100.0	A	C	PASS	0/1	23	None	None	None	0.15475	0.15480	0.21252				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	12107_s6	6	rs34433354,rs879053777,rs397777824 dbSNP Clinvar	75890933	100.0	T	TA	PASS	0/1	130	None	None	None		0.54070					None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	12107_s6	6	rs184766 dbSNP Clinvar	75857907	100.0	C	T	PASS	0/1	36	None	None	None	0.35463	0.35460					None None	None None None None	COL12A1\|0.494206072\|16.13%
COL12A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	6	rs240736 dbSNP Clinvar	75848181	100.0	A	G	PASS	0/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.26498	0.26500	0.29199	0.36	0.00		None None	None None None None	COL12A1\|0.494206072\|16.13%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	6	rs240734 dbSNP Clinvar	75847036	100.0	G	A	PASS	0/1	29	None	None	None	0.38119	0.38120					None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	12107_s6	6	rs1332020 dbSNP Clinvar	75844600	100.0	C	T	PASS	0/1	78	None	None	None	0.46086	0.46090	0.41461				None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	12107_s6	6	rs240722 dbSNP Clinvar	75833876	100.0	C	A	PASS	0/1	66	None	None	None	0.76378	0.76380					None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	12107_s6	6	rs620129 dbSNP Clinvar	75830847	100.0	G	T	PASS	0/1	55	None	None	None	0.75699	0.75700					None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	12107_s6	5	rs6880837 dbSNP Clinvar	135396669	100.0	T	C	PASS	0/1	143	None	None	None	0.59105	0.59110	0.42413				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12107_s6	5	rs13188659 dbSNP Clinvar	135396468	100.0	T	A	PASS	0/1	24	None	None	None	0.59365	0.59370					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12107_s6	5	rs13168506 dbSNP Clinvar	135396452	100.0	A	G	PASS	0/1	24	None	None	None	0.59565	0.59560					None None	None None None None	TGFBI\|0.999587957\|0.3%
TGFBI
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	5	rs1442 dbSNP Clinvar	135382989	100.0	G	C	PASS	0/1	20	SYNONYMOUS_CODING	LOW	None	0.31769	0.31770	0.34348				None None	None None None None	TGFBI\|0.999587957\|0.3%
GPR98
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	5	rs201800819 dbSNP Clinvar	90449167	100.0	G	A	PASS	0/1	115	NON_SYNONYMOUS_CODING	MODERATE	None			0.00017	0.00	0.79		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12107_s6	5	rs13158963 dbSNP Clinvar	90449154	100.0	G	A	PASS	0/1	128	SYNONYMOUS_CODING	LOW	None	0.13818	0.13820	0.11756				None None	None None None None	ADGRV1\|0.328571635\|25.58%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	5	rs35858094 dbSNP Clinvar	90445829	100.0	T	TTC	PASS	0/1	40	None	None	None	0.67372	0.67370					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12107_s6	5	rs3749605 dbSNP Clinvar	90398014	100.0	A	G	PASS	0/1	76	None	None	None	0.10643	0.10640	0.04995				None None	None None None None	ADGRV1\|0.328571635\|25.58%
GPR98
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	5	rs571159068 dbSNP Clinvar	90149194	100.0	G	A	PASS	0/1	65	SYNONYMOUS_CODING	LOW	None	0.00060	0.00060					None None	None None None None	ADGRV1\|0.328571635\|25.58%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	12107_s6	5	rs60522638 dbSNP Clinvar	90002220	100.0	C	CT	PASS	0/1	69	None	None	None							None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12107_s6	5	rs2366776 dbSNP Clinvar	89941743	100.0	T	C	PASS	0/1	27	None	None	None	0.24960	0.24960	0.18186				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12107_s6	5	rs16868903 dbSNP Clinvar	89940771	100.0	A	G	PASS	0/1	33	None	None	None	0.24062	0.24060					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12107_s6	5	rs1344030 dbSNP Clinvar	89938434	100.0	G	T	PASS	0/1	66	None	None	None	0.24042	0.24040	0.17018				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12107_s6	5	rs3838659 dbSNP Clinvar	89931159	100.0	CA	C	PASS	0/1	87	None	None	None	0.24042	0.24040	0.17361				None None	None None None None	ADGRV1\|0.328571635\|25.58%

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+ Genes 33

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Genes at Omim

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Summary

KERA

KRT3

PXDN

ABCA4

ABCA4

FOXE3

COL17A1

SFTPD

ITGB1

ITGB1

COL5A1

COL5A1

COL5A1

GSN

GSN

PIK3CG

COL12A1

TGFBI

GPR98

GPR98

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