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+ Genes 17

Genes:
ADH1B, CACNA1C, CHRNA3, COL11A1, CYP1B1, CYP2C19, DHCR7, EDAR, IL13, LRP5, MAOA, MC1R, MTHFR, MUC1, PAH, PTPN22, TPH2,

+ Genes associated with diseases 16

Genes at Omim

ADH1B, CACNA1C, CHRNA3, COL11A1, CYP1B1, DHCR7, EDAR, IL13, LRP5, MAOA, MC1R, MTHFR, MUC1, PAH, PTPN22, TPH2,

ADH1B	{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3) {Alcohol dependence, protection against}, 103780 (3)
CACNA1C	Brugada syndrome 3, 611875 (3) Timothy syndrome, 601005 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
COL11A1	{Lumbar disc herniation, susceptibility to}, 603932 (3) Fibrochondrogenesis 1, 228520 (3) Marshall syndrome, 154780 (3) Stickler syndrome, type II, 604841 (3)
CYP1B1	Anterior segment dysgenesis 6, multiple subtypes, 617315 (3) Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
DHCR7	Smith-Lemli-Opitz syndrome, 270400 (3)
EDAR	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3) Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) [Hair morphology 1, hair thickness], 612630 (3)
IL13	{Allergic rhinitis, susceptibility to}, 607154 (3) {Asthma, susceptibility to}, 600807 (3)
LRP5	{Osteoporosis}, 166710 (3) Exudative vitreoretinopathy 4, 601813 (3) Hyperostosis, endosteal, 144750 (3) Osteopetrosis, autosomal dominant 1, 607634 (3) Osteoporosis-pseudoglioma syndrome, 259770 (3) Osteosclerosis, 144750 (3) Polycystic liver disease 4 with or without kidney cysts, 617875 (3) [Bone mineral density variability 1], 601884 (3) van Buchem disease, type 2, 607636 (3)
MAOA	Brunner syndrome, 300615 (3) {Antisocial behavior}, 300615 (3)
MC1R	{Melanoma, cutaneous malignant, 5}, 613099 (3) {UV-induced skin damage}, 266300 (3) [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3) [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3) [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3) {Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
MTHFR	{Neural tube defects, susceptibility to}, 601634 (3) {Schizophrenia, susceptibility to}, 181500 (3) Homocystinuria due to MTHFR deficiency, 236250 (3) {Thromboembolism, susceptibility to}, 188050 (3) {Vascular disease, susceptibility to} (3)
MUC1	Medullary cystic kidney disease 1, 174000 (3)
PAH	Phenylketonuria, 261600 (3) [Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PTPN22	{Diabetes, type 1, susceptibility to}, 222100 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3) {Systemic lupus erythematosus susceptibility to}, 152700 (3)
TPH2	{Unipolar depression, susceptibility to}, 608516 (3) {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)

Genes at Clinical Genomics Database

CACNA1C, COL11A1, CYP1B1, CYP2C19, DHCR7, EDAR, LRP5, MAOA, MC1R, MTHFR, MUC1, PAH,

CACNA1C	Brugada syndrome 3 Timothy syndrome
COL11A1	Stickler syndrome, type II Fibrochondrogenesis Marshall syndrome
CYP1B1	Glaucoma, primary open angle, adult-onset Peters anomaly Glaucoma 3A, primary congenital
CYP2C19	Drug metabolism, CYP2C19-related
DHCR7	Smith-Lemli-Opitz syndrome
EDAR	Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Hair morphology 1
LRP5	van Buchem disease, type 2 Osteopetrosis, autosomal dominant 1 Osteosclerosis Hyperostosis, endosteal Exudative vitreoretinopathy 4 Osteoporosis-pseudoglioma syndrome
MAOA	Brunner syndrome
MC1R	Increased analgesia from kappa-opioid receptor agonist, female specific
MTHFR	Homocystinuria due to MTHFR deficiency
MUC1	Medullary cystic kidney disease 1
PAH	Phenylketonuria Hyperphenylalaninemia, non-PKU mild

Genes at HGMD

Summary

Number of Variants: 214
Number of Genes: 17

Export to: CSV

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ADH1B
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	6-na1287 both	4	rs1229984 dbSNP Clinvar	100239319	32738.77	T	C	.	1/1	3436	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.84145	0.84150	0.03652	0.65	0.00		None None	None None None None	ADH1B\|0.074839204\|56.32%
CACNA1C
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	6-na1287 both	12	rs1051360 dbSNP Clinvar	2614070	32738.77	G	T	.	0/1	7555	None	None	None	0.00040	0.00040	0.00255				None None	None None None None	CACNA1C\|0.702781937\|8.42%
CHRNA3
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	6-na1287 both	15	rs1051730 dbSNP Clinvar	78894339	32738.77	G	A	.	0/1	5947	SYNONYMOUS_CODING	LOW	SILENT	0.16813	0.16810	0.27192				None None	None None None None	CHRNA3\|0.230381335\|33.33%
COL11A1
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	6-na1287 both	1	rs1676486 dbSNP Clinvar	103354138	32738.77	A	G	.	0/1	2656	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.78295	0.78290	0.19299	1.00	0.00		None None	None None None None	COL11A1\|0.697613912\|8.57%
CYP1B1
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	6-na1287 both	2	rs10012 dbSNP Clinvar	38302390	32738.77	G	C	.	0/1	8456	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.37480	0.37480	0.34985	0.39	0.00		None None	None None None None	CYP1B1\|0.952124399\|2.18%
	View	6-na1287 both	2	rs1056837 dbSNP Clinvar	38298150	32738.77	A	G	.	0/1	4517	SYNONYMOUS_CODING	LOW	SILENT	0.62021	0.62020	0.45371				None None	None None None None	CYP1B1\|0.952124399\|2.18%
	View	6-na1287 both	2	rs1056836 dbSNP Clinvar	38298203	32738.77	C	G	.	0/1	4880	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.61482	0.61480	0.44556	0.34	0.01		None None	None None None None	CYP1B1\|0.952124399\|2.18%
CYP2C19
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	6-na1287 both	10	rs4244285 dbSNP Clinvar	96541616	24415.77	G	A	.	0/1	2076	SYNONYMOUS_CODING	LOW	SILENT	0.22145	0.22140	0.15413				None None	None None None None	CYP2C19\|0.213882881\|35.14%
DHCR7
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	6-na1287 both	11	rs1044482 dbSNP Clinvar	71155171	32738.77	C	T	.	1/1	5691	SYNONYMOUS_CODING	LOW	SILENT	0.40096	0.40100	0.37309				None None	None None None None	DHCR7\|0.081765547\|54.8%
	View	6-na1287 both	11	rs1790334 dbSNP Clinvar	71155153	32738.77	A	G	.	1/1	6527	SYNONYMOUS_CODING	LOW	SILENT	0.81010	0.81010	0.08708				None None	None None None None	DHCR7\|0.081765547\|54.8%
EDAR
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	6-na1287 both	2	rs12623957 dbSNP Clinvar	109513654	32738.77	G	A	.	1/1	4821	SYNONYMOUS_CODING	LOW	SILENT	0.71186	0.71190	0.30071				None None	None None None None	EDAR\|0.092463645\|52.73%
IL13
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	6-na1287 both	5	rs20541 dbSNP Clinvar	131995964	32738.77	A	G	.	0/1	8865	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.73003	0.73000	0.18730	0.28	0.00		None None	None None None None	IL13\|0.004162767\|86.79%
LRP5
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	6-na1287 both	11	rs3736228 dbSNP Clinvar	68201295	32738.77	C	T	.	0/1	9031	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11601	0.11600	0.10923	0.22	0.01		None None	None None None None	LRP5\|0.688053439\|8.86%
MAOA
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	6-na1287 both	X	rs1137070 dbSNP Clinvar	43603391	32738.77	T	C	.	1/1	3468	SYNONYMOUS_CODING	LOW	SILENT	0.55179	0.55180	0.32680				None None	None None None None	MAOA\|0.148857367\|43.16%
MC1R
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	6-na1287 both	16	rs885479 dbSNP Clinvar	89986154	32738.77	G	A	.	0/1	9994	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.19129	0.19130	0.03707	0.30	0.01		None None	None None None None	MC1R\|0.013226594\|78.34%,TUBB3\|0.052450362\|61.93%
MTHFR
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	6-na1287 both	1	rs1801131 dbSNP Clinvar	11854476	32738.77	T	G	.	0/1	9195	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.24940	0.24940	0.25957	0.14	0.01		None None	None None None None	MTHFR\|0.736730973\|7.44%
	View	6-na1287 both	1	rs4846051 dbSNP Clinvar	11854457	32738.77	G	A	.	1/1	8820	SYNONYMOUS_CODING	LOW	SILENT	0.90296	0.90300	0.10949				None None	None None None None	MTHFR\|0.736730973\|7.44%
	View	6-na1287 both	1	rs1801133 dbSNP Clinvar	11856378	32738.77	G	A	.	0/1	7496	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.24541	0.24540	0.27057	0.00	0.94		None None	None None None None	MTHFR\|0.736730973\|7.44%
MUC1
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	6-na1287 both	1	rs4072037 dbSNP Clinvar	155162067	32738.77	C	T	.	0/1	9993	SYNONYMOUS_CODING	LOW	SILENT	0.62879	0.62880	0.42765				None None	None None None None	MUC1\|0.021504475\|73.46%
PAH
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	6-na1287 both	12	rs5030860 dbSNP Clinvar	103234252	32738.77	T	C	.	0/1	3202	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00020	0.00020	0.00031	0.00	1.00		None None	None None None None	PAH\|0.397123463\|20.97%
PTPN22
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	6-na1287 both	1	rs2476601 dbSNP Clinvar	114377568	32738.77	A	G	.	1/1	6656	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.97264	0.97260	0.06835	1.00	0.00		None None	None None None None	PTPN22\|0.124440937\|46.74%
TPH2
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	6-na1287 both	12	rs7305115 dbSNP Clinvar	72372862	32738.77	A	G	.	0/1	3362	SYNONYMOUS_CODING	LOW	SILENT	0.54173	0.54170	0.41812				None None	None None None None	TPH2\|0.532472095\|14.47%
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	6-na1287 both	18	rs4939826 dbSNP Clinvar	46453406	32738.77	A	C	.	1/1	6355	None	None	None	0.91953	0.91950					None None	None None None None	SMAD7\|0.992168274\|1.01%
	View	6-na1287 both	18	rs12373237 dbSNP Clinvar	21425936	32738.77	G	A	.	0/1	6566	None	None	None	0.33566	0.33570					None None	None None None None	LAMA3\|0.045252413\|64.13%
	View	6-na1287 both	18	rs10853591 dbSNP Clinvar	21425852	32738.77	T	C	.	0/1	8146	None	None	None	0.54952	0.54950					None None	None None None None	LAMA3\|0.045252413\|64.13%
	View	6-na1287 both	18	rs12969041 dbSNP Clinvar	13191184	32738.77	C	T	.	0/1	6538	None	None	None	0.39357	0.39360					None None	None None None None	None
	View	6-na1287 both	18	rs2027758 dbSNP Clinvar	13191139	32738.77	G	C	.	0/1	5269	None	None	None	0.72544	0.72540					None None	None None None None	None
	View	6-na1287 both	18	rs2027757 dbSNP Clinvar	13191137	32738.77	A	G	.	1/1	5264	None	None	None	0.96865	0.96870					None None	None None None None	None
	View	6-na1287 both	17	rs1859962 dbSNP Clinvar	69108753	32738.77	G	T	.	1/1	3535	None	None	None	0.57508	0.57510					None None	None None None None	None
	View	6-na1287 both	17	rs6504340 dbSNP Clinvar	46617019	32738.77	A	G	.	0/1	6443	None	None	None	0.76018	0.76020					None None	None None None None	None
	View	6-na1287 both	17	rs1513670 dbSNP Clinvar	41807331	32738.77	T	C	.	1/1	4695	None	None	None	0.58726	0.58730					None None	None None None None	None
	View	6-na1287 both	17	rs1513671 dbSNP Clinvar	41807310	32738.77	G	C	.	1/1	4089	None	None	None	0.63478	0.63480					None None	None None None None	None
	View	6-na1287 both	17	rs7216389 dbSNP Clinvar	38069949	32738.77	C	T	.	0/1	6163	None	None	None	0.66793	0.66790					None None	None None None None	GSDMB\|0.00094476\|95.82%
	View	6-na1287 both	17	rs3826392 dbSNP Clinvar	11922904	32738.77	G	T	.	0/1	5888	None	None	None	0.67851	0.67850					None None	None None None None	None
	View	6-na1287 both	17	rs3744700 dbSNP Clinvar	4638010	32738.77	T	G	.	0/1	6751	None	None	None	0.74641	0.74640	0.36706				None None	None None None None	CXCL16\|0.000363765\|99.17%
	View	6-na1287 both	16	rs1532624 dbSNP Clinvar	57005479	32738.77	C	A	.	0/1	8566	None	None	None	0.31310	0.31310					None None	None None None None	CETP\|0.018396034\|75.02%
	View	6-na1287 both	16	rs9939609 dbSNP Clinvar	53820527	32738.77	T	A	.	1/1	6119	None	None	None	0.34006	0.34010					None None	None None None None	FTO\|0.982020523\|1.4%
	View	6-na1287 both	16	rs9926289 dbSNP Clinvar	53820503	32738.77	G	A	.	1/1	5620	None	None	None	0.34006	0.34010					None None	None None None None	FTO\|0.982020523\|1.4%
	View	6-na1287 both	16	rs8043757 dbSNP Clinvar	53813450	32738.77	A	T	.	1/1	2052	None	None	None	0.31669	0.31670					None None	None None None None	FTO\|0.982020523\|1.4%
	View	6-na1287 both	16	rs17817449 dbSNP Clinvar	53813367	32738.77	T	G	.	1/1	3089	None	None	None	0.30771	0.30770					None None	None None None None	FTO\|0.982020523\|1.4%
	View	6-na1287 both	16	rs1558902 dbSNP Clinvar	53803574	32738.77	T	A	.	1/1	2659	None	None	None	0.22804	0.22800					None None	None None None None	FTO\|0.982020523\|1.4%
	View	6-na1287 both	16	rs3803662 dbSNP Clinvar	52586341	32738.77	A	G	.	0/1	3250	None	None	None	0.55970	0.55970					None None	None None None None	None
	View	6-na1287 both	15	rs12443170 dbSNP Clinvar	78907736	32738.77	G	A	.	0/1	4593	None	None	None	0.14337	0.14340					None None	None None None None	CHRNA3\|0.230381335\|33.33%
	View	6-na1287 both	15	rs6495308 dbSNP Clinvar	78907656	32738.77	T	C	.	0/1	6309	None	None	None	0.44948	0.44950					None None	None None None None	CHRNA3\|0.230381335\|33.33%
	View	6-na1287 both	15	rs8034191 dbSNP Clinvar	78806023	32738.77	T	C	.	0/1	5535	None	None	None	0.18890	0.18890					None None	None None None None	HYKK\|0.017275553\|75.69%
	View	6-na1287 both	15	rs1378942 dbSNP Clinvar	75077367	32738.77	C	A	.	1/1	6340	None	None	None	0.24461	0.24460					None None	None None None None	CSK\|0.400426562\|20.75%
	View	6-na1287 both	15	rs762551 dbSNP Clinvar	75041917	32738.77	C	A	.	1/1	8595	None	None	None	0.62979	0.62980					None None	None None None None	CYP1A2\|0.080566109\|55.04%
	View	6-na1287 both	15	rs4646 dbSNP Clinvar	51502844	32738.77	A	C	.	0/1	3528	None	None	None	0.66434	0.66430					None None	None None None None	CYP19A1\|0.496999765\|15.99%
	View	6-na1287 both	15	rs4779585 dbSNP Clinvar	32994777	32738.77	C	T	.	1/1	3089	None	None	None	0.50978	0.50980					None None	None None None None	None
	View	6-na1287 both	15	rs4779584 dbSNP Clinvar	32994756	32738.77	T	C	.	1/1	3624	None	None	None	0.50699	0.50700					None None	None None None None	None
	View	6-na1287 both	15	rs7173419 dbSNP Clinvar	28196821	32738.77	T	C	.	1/1	6797	None	None	None	0.41793	0.41790					None None	None None None None	OCA2\|0.051084129\|62.33%
	View	6-na1287 both	14	rs944289 dbSNP Clinvar	36649246	32738.77	C	T	.	1/1	4019	None	None	None	0.39297	0.39300					None None	None None None None	None
	View	6-na1287 both	13	rs9561778 dbSNP Clinvar	95713715	32738.77	G	T	.	0/1	4382	None	None	None	0.00140	0.00140					None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	6-na1287 both	13	rs9543325 dbSNP Clinvar	73916628	32738.77	C	T	.	1/1	4580	None	None	None	0.45947	0.45950					None None	None None None None	None
	View	6-na1287 both	13	rs17085007 dbSNP Clinvar	27531267	32738.77	T	C	.	0/1	6713	None	None	None	0.18351	0.18350					None None	None None None None	None
	View	6-na1287 both	12	rs4474514 dbSNP Clinvar	88953959	32738.77	G	A	.	1/1	4384	None	None	None	0.62620	0.62620					None None	None None None None	KITLG\|0.998656229\|0.47%
	View	6-na1287 both	12	rs12425791 dbSNP Clinvar	783484	32738.77	G	A	.	0/1	4941	None	None	None	0.22165	0.22160					None None	None None None None	None
	View	6-na1287 both	11	rs662799 dbSNP Clinvar	116663707	32738.77	G	A	.	1/1	5744	None	None	None	0.83706	0.83710					None None	None None None None	None
	View	6-na1287 both	11	rs964184 dbSNP Clinvar	116648917	32738.77	G	C	.	1/1	6487	None	None	None	0.77776	0.77780					None None	None None None None	ZPR1\|0.225094215\|33.85%
	View	6-na1287 both	11	rs3802842 dbSNP Clinvar	111171709	32738.77	C	A	.	1/1	5923	None	None	None	0.71346	0.71350					None None	None None None None	COLCA1\|0.000728869\|97.13%,COLCA2\|0.022367358\|72.96%
	View	6-na1287 both	11	rs3802841 dbSNP Clinvar	111171672	32738.77	G	T	.	1/1	5934	None	None	None	0.71386	0.71390					None None	None None None None	COLCA1\|0.000728869\|97.13%,COLCA2\|0.022367358\|72.96%
	View	6-na1287 both	11	rs3802840 dbSNP Clinvar	111171646	32738.77	T	G	.	1/1	4840	None	None	None	0.71446	0.71450					None None	None None None None	COLCA1\|0.000728869\|97.13%,COLCA2\|0.022367358\|72.96%
	View	6-na1287 both	11	rs1799750,rs796666299 dbSNP Clinvar	102670495	32729.73	TC	T	.	1/1	3392	None	None	None	0.43730	0.43730					None None	None None None None	None
	View	6-na1287 both	11	rs10793294 dbSNP Clinvar	77996403	32738.77	C	A	.	1/1	4464	None	None	None	0.44848	0.44850					None None	None None None None	GAB2\|0.188194855\|38.04%
	View	6-na1287 both	11	rs7927997 dbSNP Clinvar	76301375	32738.77	C	T	.	0/1	5417	None	None	None	0.28395	0.28390					None None	None None None None	None
	View	6-na1287 both	11	rs7927894 dbSNP Clinvar	76301316	32738.77	C	T	.	0/1	6650	None	None	None	0.30152	0.30150					None None	None None None None	None
	View	6-na1287 both	11	rs7926914 dbSNP Clinvar	76301255	32738.77	G	T	.	0/1	5869	None	None	None	0.30072	0.30070					None None	None None None None	None
	View	6-na1287 both	11	rs869736 dbSNP Clinvar	67205462	32738.77	C	A	.	0/1	9982	START_GAINED	LOW		0.50579	0.50580					None None	None None None None	PTPRCAP\|0.005715909\|84.95%
	View	6-na1287 both	11	rs174547 dbSNP Clinvar	61570783	32738.77	T	C	.	0/1	6936	None	None	None	0.29792	0.29790	0.25350				None None	None None None None	FADS2\|0.042878721\|64.84%,FADS1\|0.159972554\|41.56%
	View	6-na1287 both	11	rs1799854 dbSNP Clinvar	17448704	32738.77	G	A	.	0/1	6914	None	None	None	0.36841	0.36840	0.35361				None None	None None None None	ABCC8\|0.967482639\|1.79%
	View	6-na1287 both	11	rs4074905 dbSNP Clinvar	2189185	32738.77	G	A	.	0/1	8636	None	None	None	0.70567	0.70570	0.39754				None None	None None None None	TH\|0.769890184\|6.58%
	View	6-na1287 both	10	rs2981579 dbSNP Clinvar	123337335	32738.77	A	G	.	0/1	5720	None	None	None	0.50939	0.50940					None None	None None None None	FGFR2\|0.998388411\|0.5%
	View	6-na1287 both	10	rs7903146 dbSNP Clinvar	114758349	32738.77	C	T	.	1/1	4336	None	None	None	0.22784	0.22780					None None	None None None None	TCF7L2\|0.99579985\|0.77%
	View	6-na1287 both	10	rs3841710,rs398014670 dbSNP Clinvar	104846219	32729.73	G	GTTGT	.	0/1	5945	None	None	None	0.44349	0.44350					None None	None None None None	CNNM2\|0.39099659\|21.34%,NT5C2\|0.724460719\|7.86%
	View	6-na1287 both	10	rs1111875 dbSNP Clinvar	94462882	32738.77	C	T	.	0/1	5066	None	None	None	0.45627	0.45630					None None	None None None None	None
	View	6-na1287 both	10	rs4935176 dbSNP Clinvar	51549545	32738.77	G	T	.	1/1	6202	None	None	None	0.95407	0.95410	0.05213				None None	None None None None	MSMB\|0.000448438\|98.7%
	View	6-na1287 both	10	rs10993994 dbSNP Clinvar	51549496	32738.77	T	C	.	0/1	6829	None	None	None	0.48263	0.48260	0.47087				None None	None None None None	None
	View	6-na1287 both	10	rs3793784 dbSNP Clinvar	50747539	32738.77	G	C	.	0/1	6815	None	None	None	0.23782	0.23780					None None	None None None None	ERCC6\|0.075391491\|56.19%,ERCC6-PGBD3\|0.004595381\|86.32%
	View	6-na1287 both	10	rs3118470 dbSNP Clinvar	6101713	32738.77	T	C	.	0/1	4885	None	None	None	0.31849	0.31850					None None	None None None None	IL2RA\|0.034092166\|67.75%
	View	6-na1287 both	9	rs2236514 dbSNP Clinvar	139572068	32738.77	C	G	.	0/1	5956	None	None	None	0.62820	0.62820					None None	None None None None	AGPAT2\|0.018792809\|74.8%
	View	6-na1287 both	9	rs1537414 dbSNP Clinvar	138529777	32738.77	G	T	.	0/1	4661	None	None	None	0.53075	0.53080					None None	None None None None	GLT6D1\|0.000296693\|99.42%
	View	6-na1287 both	9	rs12683493 dbSNP Clinvar	136155063	32738.77	C	T	.	0/1	4546	None	None	None	0.13059	0.13060					None None	None None None None	None
	View	6-na1287 both	9	rs635634 dbSNP Clinvar	136155000	32738.77	C	T	.	0/1	6214	None	None	None	0.13978	0.13980					None None	None None None None	None
	View	6-na1287 both	9	rs10757283 dbSNP Clinvar	22134172	32738.77	C	T	.	1/1	4189	None	None	None	0.49720	0.49720					None None	None None None None	None
	View	6-na1287 both	9	rs1333047 dbSNP Clinvar	22124504	32738.77	A	T	.	0/1	3129	None	None	None	0.68331	0.68330					None None	None None None None	None
	View	6-na1287 both	9	rs10757278 dbSNP Clinvar	22124477	32738.77	A	G	.	0/1	3528	None	None	None	0.40815	0.40810					None None	None None None None	None
	View	6-na1287 both	9	rs10811656 dbSNP Clinvar	22124472	32738.77	C	T	.	0/1	3517	None	None	None	0.45308	0.45310					None None	None None None None	None
	View	6-na1287 both	9	rs10757277 dbSNP Clinvar	22124450	32738.77	A	G	.	0/1	3470	None	None	None	0.40815	0.40810					None None	None None None None	None
	View	6-na1287 both	9	rs3814112 dbSNP Clinvar	16914967	32738.77	T	C	.	1/1	5682	None	None	None	0.84305	0.84310					None None	None None None None	None
	View	6-na1287 both	9	rs1408799 dbSNP Clinvar	12672097	21098.77	T	C	.	0/1	1634	None	None	None	0.27716	0.27720					None None	None None None None	None
	View	6-na1287 both	8	rs1447295 dbSNP Clinvar	128485038	32738.77	A	C	.	1/1	4056	None	None	None	0.81889	0.81890					None None	None None None None	None
	View	6-na1287 both	8	rs34835043 dbSNP Clinvar	128413389	29059.77	A	G	.	0/1	2098	None	None	None	0.04533	0.04533					None None	None None None None	None
	View	6-na1287 both	8	rs6983267 dbSNP Clinvar	128413305	32738.77	G	T	.	0/1	3364	None	None	None	0.39018	0.39020					None None	None None None None	None
	View	6-na1287 both	8	rs5894757,rs397823349 dbSNP Clinvar	126491011	32729.73	T	TG	.	1/1	4834	None	None	None	0.65316	0.65320					None None	None None None None	None
	View	6-na1287 both	8	rs2954029 dbSNP Clinvar	126490972	32738.77	A	T	.	1/1	4586	None	None	None	0.40495	0.40500					None None	None None None None	None
	View	6-na1287 both	8	rs2046315 dbSNP Clinvar	90211100	32738.77	A	G	.	1/1	1596	None	None	None	0.64996	0.65000					None None	None None None None	None
	View	6-na1287 both	8	rs10958409 dbSNP Clinvar	55327091	32738.77	G	A	.	0/1	4428	None	None	None	0.26218	0.26220					None None	None None None None	None
	View	6-na1287 both	7	rs4236601 dbSNP Clinvar	116162729	32738.77	G	A	.	0/1	3812	None	None	None	0.22604	0.22600					None None	None None None None	None
	View	6-na1287 both	7	rs4607517 dbSNP Clinvar	44235668	32738.77	G	A	.	0/1	5453	None	None	None	0.14337	0.14340					None None	None None None None	GCK\|0.716649678\|8.08%
	View	6-na1287 both	7	rs1799884 dbSNP Clinvar	44229068	32738.77	C	T	.	0/1	8059	None	None	None	0.16693	0.16690					None None	None None None None	GCK\|0.716649678\|8.08%

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FREQUENCIES

SCORES

+ Genes 17

+ Genes associated with diseases 16

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ADH1B

CACNA1C

CHRNA3

COL11A1

CYP1B1

CYP2C19

DHCR7

EDAR

IL13

LRP5

MAOA

MC1R

MTHFR

MUC1

PAH

PTPN22

TPH2

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