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Genes:
ANAPC1, AQP7, CD209, CES1, CFH, CFHR1, CFTR, CGB1, CGB7, CYP2B6, CYP4F2, DDX11, DSPP, DUX4L4, EPPK1, F5, FAM205A, FANCD2, FRG1, FRG1B, HLA-A, HLA-B, HS6ST1, HYDIN, KCNJ12, KIR2DL3, KIR2DL4, KIR3DL2, KMT2C, KRT32, MAML3, MAP2K3, MTCH2, MUC2, MUC4, MUC6, MUC7, NBPF1, NOTCH2NL, NR0B1, PCDHA8, PCDHB7, PCNT, PLIN4, PRB1, PRB2, PRB3, PRG4, PRSS1, RP11-683L23.1, RP1L1, RUNX1, SAA2, SDHA, SELPLG, SETD8, SHANK3, TAS2R30, TAS2R43, TAS2R46, TPSAB1, TRBV11-1, TRIOBP, TTN, VCX3B, ZAN, ZNF224, ZNF480, ZNF627,

+ Genes associated with diseases 27

Genes at Omim

AQP7, CD209, CES1, CFH, CFHR1, CFTR, CYP2B6, DDX11, DSPP, F5, FANCD2, HLA-A, HLA-B, HS6ST1, HYDIN, KMT2C, MUC7, NR0B1, PCNT, PRG4, PRSS1, RP1L1, RUNX1, SDHA, SHANK3, TRIOBP, TTN,

AQP7	[Glycerol quantitative trait locus], 614411 (3)
CD209	{HIV type 1, susceptibility to}, 609423 (3) {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) {Dengue fever, protection against}, 614371 (3)
CES1	Drug metabolism, altered, CES1-related, 618057 (3)
CFH	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3) Basal laminar drusen, 126700 (3) {Macular degeneration, age-related, 4}, 610698 (3) Complement factor H deficiency, 609814 (3)
CFHR1	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) {Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFTR	{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CYP2B6	Efavirenz, poor metabolism of, 614546 (3) {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DDX11	Warsaw breakage syndrome, 613398 (3)
DSPP	Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) Dentin dysplasia, type II, 125420 (3) Dentinogenesis imperfecta, Shields type II, 125490 (3) Dentinogenesis imperfecta, Shields type III, 125500 (3)
F5	Factor V deficiency, 227400 (3) {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3) {Stroke, ischemic, susceptibility to}, 601367 (3) {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3) Thrombophilia due to activated protein C resistance, 188055 (3) {Budd-Chiari syndrome}, 600880 (3)
FANCD2	Fanconi anemia, complementation group D2, 227646 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HS6ST1	{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
MUC7	{Asthma, protection against}, 600807 (3)
NR0B1	Adrenal hypoplasia, congenital, 300200 (3) 46XY sex reversal 2, dosage-sensitive, 300018 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
RP1L1	Occult macular dystrophy, 613587 (3)
RUNX1	Leukemia, acute myeloid, 601626 (3) Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SHANK3	{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TTN	Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3)

Genes at Clinical Genomics Database

CES1, CFH, CFHR1, CFTR, CYP2B6, CYP4F2, DDX11, DSPP, F5, FANCD2, HLA-A, HLA-B, HS6ST1, NR0B1, PCNT, PRG4, PRSS1, RP1L1, RUNX1, SDHA, SHANK3, TRIOBP, TTN, ZNF480,

CES1	Carboxylesterase 1 deficiency
CFH	Hemolytic uremic syndrome, atypical Complement factor H deficiency
CFHR1	Hemolytic-uremic syndrome, atypical, susceptibility to
CFTR	Cystic fibrosis
CYP2B6	Efavirenz, poor metabolism of
CYP4F2	Warfarin metabolism
DDX11	Warsaw breakage syndrome
DSPP	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
F5	Thrombophilia due to activated protein C resistance Factor V deficiency
FANCD2	Fanconi anemia, complementation group D2
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HS6ST1	Hypogonadotropic hypogonadism 15, with or without anosmia
NR0B1	Adrenal hypoplasia, congenital 46,XY sex reversal 2
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PRSS1	Pancreatitis, hereditary
RP1L1	Occult macular dystrophy Retinitis pigmentosa, autosomal recessive
RUNX1	Platelet disorder, familial, with associated myeloid malignancy
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SHANK3	Phelan-McDermid syndrome Schizophrenia
TRIOBP	Deafness, autosomal recessive 28
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
ZNF480	Schizophrenia

Genes at HGMD

Summary

Number of Variants: 405
Number of Genes: 69

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ANAPC1
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	15ac02303_s1 genome	2	rs72936244 dbSNP Clinvar	112615933	155.45	T	C	LowQD	0/1	119	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ANAPC1\|0.14646446\|43.53%
	View	15ac02303_s1 genome	2	rs79100806 dbSNP Clinvar	112615888	64.09	C	G	LowQD	0/1	79	NON_SYNONYMOUS_CODING	MODERATE	None				0.21	0.00		None None	None None None None	ANAPC1\|0.14646446\|43.53%
AQP7
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	15ac02303_s1 genome	9	rs74557595 dbSNP Clinvar	33385287	408.18	T	C	LowQD	0/1	213	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.15	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
CD209
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	15ac02303_s1 genome	19	.	7810448	160.58	T	A	LowQD	0/1	99	NON_SYNONYMOUS_CODING	MODERATE	None				0.20	0.00		None None	None None None None	CD209\|0.001091025\|94.97%
CES1
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	15ac02303_s1 genome	16	rs3826194 dbSNP Clinvar	55862762	483.08	C	G	LowQD	0/1	266	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CES1\|0.015845795\|76.58%
	View	15ac02303_s1 genome	16	rs74019278 dbSNP Clinvar	55862720	362.83	T	C	LowQD	0/1	237	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CES1\|0.015845795\|76.58%
	View	15ac02303_s1 genome	16	rs3826192 dbSNP Clinvar	55862824	328.33	C	T	LowQD	0/1	242	NON_SYNONYMOUS_CODING	MODERATE	None				0.35	0.01		None None	None None None None	CES1\|0.015845795\|76.58%
	View	15ac02303_s1 genome	16	rs76828834 dbSNP Clinvar	55862717	285.54	T	C	LowQD	0/1	217	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CES1\|0.015845795\|76.58%
	View	15ac02303_s1 genome	16	rs3826191 dbSNP Clinvar	55862836	322.7	G	A	LowQD	0/1	220	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CES1\|0.015845795\|76.58%
	View	15ac02303_s1 genome	16	rs3826193 dbSNP Clinvar	55862791	512.98	T	C	LowQD	0/1	274	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	CES1\|0.015845795\|76.58%
CFH
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	15ac02303_s1 genome	1	rs61822181 dbSNP Clinvar	196712586	178.18	C	T	LowQD	0/1	101	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CFH\|0.021522909\|73.44%
CFHR1
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	15ac02303_s1 genome	1	rs388862 dbSNP Clinvar	196797292	234.24	G	C	LowQD	0/1	175	NON_SYNONYMOUS_CODING	MODERATE	None				0.49	0.00		None None	None None None None	CFHR1\|0.001540136\|92.58%,CFHR2\|0.000734452\|97.12%
CFTR
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	15ac02303_s1 genome	7	rs201880593 dbSNP Clinvar	117188750	167.41	C	T	LowQD	0/1	198	NON_SYNONYMOUS_CODING	MODERATE	None				0.70	0.24		None None	None None None None	CFTR\|0.947527653\|2.33%
	View	15ac02303_s1 genome	7	rs201434579 dbSNP Clinvar	117188797	125.65	A	G	LowQD	0/1	201	NON_SYNONYMOUS_CODING	MODERATE	None				0.19	0.00		None None	None None None None	CFTR\|0.947527653\|2.33%
CGB1
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	15ac02303_s1 genome	19	rs62126040 dbSNP Clinvar	49539560	241.49	T	C	LowQD	0/1	129	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.22784	0.22780		0.41	0.00		None None	None None None None	CGB1\|0.00401329\|87.01%
CGB7