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Genes:
ABCC2, AC005609.1, AC132186.1, AGAP6, AKAP3, AL133373.1, AL390778.1, ALG9, ANKRD18A, AOAH, AQP12B, ARMCX4, ATG9B, B3GNT6, C10ORF68, C17orf100, C21orf49, CAPN11, CASP5, CASP9, CBWD3, CCDC163P, CCDC182, CCDC39, CD177, CDCP2, CEL, CHRFAM7A, CLDN5, CLECL1, COL26A1, COL6A5, CPNE1, CRIPAK, CTAGE5, CYP2F1, DCAF7, DEFB126, DUSP13, EME2, FADS6, FCN3, GAS2L1, GNRH2, GPATCH4, GRIN3B, GRP, HLA-A, HLA-B, HLA-DRB1, HLA-G, HSH2D, ITIH5, KIAA0040, KRT24, KRTAP19-6, LAPTM4B, LEPREL2, MADCAM1, MAML3, MICA, MMP28, MS4A14, MUC20, MZT2A, NCAM1, NLRC3, NOP16, OBP2A, OR11G2, OR12D1, OR1B1, OR2B11, OR2T12, OR2T35, OR2T4, OR2T7, OR2W3, OR4L1, OR51F1, OR51I2, OR5G3, OR5M1, OR6C1, OR6Q1, OR7G3, OR9K2, P2RX5, PABPC1, PABPC3, PCDHA4, PDE4DIP, PEX16, PGPEP1L, PKD1L2, PNLIPRP2, POLR1B, PRAMEF4, PRPF40A, RIBC2, RP11-166B2.1, RP11-408E5.4, SARM1, SCARF2, SCRN3, SIGLEC12, SLC22A14, SLC41A3, SLC7A6OS, SON, SPATA4, SRRM3, SRSF8, TCEAL6, TDG, TGFBR2, TIGD6, TNFRSF12A, TTC40, ZAN, ZFPM1, ZFYVE19, ZNF141, ZNF211, ZNF443, ZNF474, ZNF480, ZNF516, ZNF626, ZNF844, ZNF852, ZNF880,

+ Genes associated with diseases 14

Genes at Omim

ABCC2, ALG9, CCDC39, CEL, FCN3, HLA-A, HLA-B, HLA-DRB1, HLA-G, PEX16, SCARF2, SON, TGFBR2, ZNF141,

ABCC2	Dubin-Johnson syndrome, 237500 (3)
ALG9	Congenital disorder of glycosylation, type Il, 608776 (3) Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
CCDC39	Ciliary dyskinesia, primary, 14, 613807 (3)
CEL	Maturity-onset diabetes of the young, type VIII, 609812 (3)
FCN3	Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Drug-induced liver injury due to flucloxacillin} (3) {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)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G	{Asthma, susceptibility to}, 600807 (2)
PEX16	Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3) Peroxisome biogenesis disorder 8B, 614877 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SON	ZTTK syndrome, 617140 (3)
TGFBR2	Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3) Esophageal cancer, somatic, 133239 (3) Loeys-Dietz syndrome 2, 610168 (3)
ZNF141	?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ABCC2, ALG9, CCDC39, CEL, FCN3, HLA-A, HLA-B, PEX16, SCARF2, TGFBR2, ZNF141, ZNF480,

ABCC2	Dubin-Johnson syndrome
ALG9	Congenital disorder of glycosylation, type Il
CCDC39	Ciliary dyskinesia, primary, 14
CEL	Maturity-onset diabetes of the young, type 8
FCN3	Immunodeficiency due to Ficolin 3 deficiency
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
PEX16	Peroxisome biogenesis factor disorder 16
SCARF2	Van den Ende-Gupta syndrome
TGFBR2	Loeys-Dietz syndrome, type 2B Loeys-Dietz syndrome, type 1B
ZNF141	Postaxial polydactyly type A, autosomal recessive
ZNF480	Schizophrenia

Genes at HGMD

Summary

Number of Variants: 176
Number of Genes: 132

Export to: CSV

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OR9K2
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	2388	12	rs58036029,rs398102299 dbSNP Clinvar	55523586	68.13	AT	A	PASS	1/1	7	FRAME_SHIFT	HIGH		0.30411	0.30410	0.34582				None None	None None None None	OR9K2\|0.028863364\|69.96%
PDE4DIP
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	2388	1	rs66512216 dbSNP Clinvar	144915623	23.41	AG	A	PASS	0/1	28	FRAME_SHIFT	HIGH				0.12828				None None	None None None None	PDE4DIP\|0.07469644\|56.36%
ZNF474
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	2388	5	rs3217313,rs398102325 dbSNP Clinvar	121488635	50.0	AT	A	PASS	0/1	26	FRAME_SHIFT	HIGH		0.18630	0.18630	0.15018				None None	None None None None	ZNF474\|0.012115515\|79.14%
HLA-B
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	2388	6	rs753354858 dbSNP Clinvar	31324207	60.22	AGG	A	PASS	1\|1	6	FRAME_SHIFT	HIGH								None None	None None None None	HLA-B\|0.04113834\|65.4%
HLA-DRB1
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	2388	6	rs767010367 dbSNP Clinvar	32552146	45.71	AG	A	PASS	0\|1	13	FRAME_SHIFT	HIGH								None None	None None None None	HLA-DRB1\|0.032266025\|68.49%
ZNF141
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	2388	4	rs782668952 dbSNP Clinvar	338201	20.88	ATC	A	PASS	0\|1	12	FRAME_SHIFT	HIGH								None None	None None None None	ZNF141\|0.002655257\|89.36%
HLA-DRB1
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	2388	6	rs773489989 dbSNP Clinvar	32552144	45.72	AC	A	PASS	0\|1	13	FRAME_SHIFT	HIGH								None None	None None None None	HLA-DRB1\|0.032266025\|68.49%
MS4A14
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	2388	11	rs3217518 dbSNP Clinvar	60165352	107.2	ATT	A	PASS	1/1	20	FRAME_SHIFT	HIGH		0.58706	0.58710	0.40829				None None	None None None None	MS4A14\|0.000550519\|98.18%
PABPC3
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	2388	13	rs376589131 dbSNP Clinvar	25671272	17.73	AG	A	PASS	0\|1	63	FRAME_SHIFT	HIGH								None None	None None None None	PABPC3\|0.002678651\|89.3%
NLRC3
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	2388	16	rs56070390,rs398078461,rs796086799 dbSNP Clinvar	3602227	245.6	AG	A	PASS	1/1	66	FRAME_SHIFT	HIGH		1.00000	1.00000	0.00017				None None	None None None None	NLRC3\|0.028009063\|70.4%