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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
A4GALT, ACO2, ADORA2A, APOBEC3B, APOBEC3H, APOL1, APOL3, ARSA, ARVCF, BCR, CABIN1, CELSR1, CLTCL1, COMT, CPT1B, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, CYP2D7P, DGCR14, EP300, FBLN1, FBXO7, GGT5, GSTT2B, HPS4, IL17RA, IL17REL, LARGE, MCHR1, MKL1, MLC1, MYH9, MYO18B, NAGA, NCF4, NEFH, PIWIL3, PNPLA3, PRODH, SCARF2, SCO2, SERPIND1, SHANK3, SMC1B, SNAP29, SOX10, SPECC1L, SREBF2, SYNGR1, TBX1, TCN2, TIMP3, TNFRSF13C, TRIOBP, TSPO, TUBA8, TUBGCP6, TXNRD2, TYMP, UPK3A, ZDHHC8,

+ Genes associated with diseases 40

Genes at Omim

A4GALT, ACO2, APOL1, ARSA, BCR, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, EP300, FBLN1, FBXO7, HPS4, IL17RA, LARGE, MKL1, MLC1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, SCARF2, SCO2, SHANK3, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TNFRSF13C, TRIOBP, TUBA8, TUBGCP6, TXNRD2, TYMP,

A4GALT	NOR polyagglutination syndrome, 111400 (3) [Blood group, P1Pk system, P(2) phenotype], 111400 (3) [Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2	Infantile cerebellar-retinal degeneration, 614559 (3) ?Optic atrophy 9, 616289 (3)
APOL1	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
ARSA	Metachromatic leukodystrophy, 250100 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
COMT	{Panic disorder, susceptibility to}, 167870 (3) {Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4	Cataract 23, 610425 (3)
CRYBB2	Cataract 3, multiple types, 601547 (3)
CRYBB3	Cataract 22, 609741 (3)
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
EP300	Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7	Parkinson disease 15, autosomal recessive, 260300 (3)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA	Immunodeficiency 51, 613953 (3)
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
MKL1	Megakaryoblastic leukemia, acute (3)
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA	Kanzaki disease, 609242 (3) Schindler disease, type I, 609241 (3) Schindler disease, type III, 609241 (3)
NCF4	?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRODH	Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) Myopia 6, 608908 (3)
SHANK3	{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3)
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10	PCWH syndrome, 609136 (3) Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3) Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L	Hypertelorism, Teebi type, 145420 (3) ?Facial clefting, oblique, 1, 600251 (3) Opitz GBBB syndrome, type II, 145410 (3)
TBX1	Conotruncal anomaly face syndrome, 217095 (3) DiGeorge syndrome, 188400 (3) Tetralogy of Fallot, 187500 (3) Velocardiofacial syndrome, 192430 (3)
TCN2	Transcobalamin II deficiency, 275350 (3)
TIMP3	Sorsby fundus dystrophy, 136900 (3)
TNFRSF13C	Immunodeficiency, common variable, 4, 613494 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TUBA8	Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2	?Glucocorticoid deficiency 5, 617825 (3)
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ARSA, BCR, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, EP300, FBLN1, FBXO7, HPS4, IL17RA, LARGE, MLC1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, SCARF2, SCO2, SERPIND1, SHANK3, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TNFRSF13C, TRIOBP, TUBA8, TUBGCP6, TYMP, UPK3A,

A4GALT	Blood group, P system
ACO2	Infantile cerebellar-retinal degeneration Optic atrophy 9
ARSA	Metachromatic leukodystrophy
BCR	CML treatment, response to
COMT	Medication response, association with
CRYBA4	Cataract 23
CRYBB2	Cataract, sutural, with punctate and cerulean opacities Cataract, Coppock-like Cataract, congenital, cerulean type, 2
CRYBB3	Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6	Drug metabolism, CYP2CD6-related
EP300	Rubinstein-Taybi syndrome 2
FBLN1	Synpolydactyly 2
FBXO7	Parkinson disease 15, autosomal recessive
HPS4	Hermansky-Pudlak syndrome 4
IL17RA	Candiasis, familial, 5
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA	Kanzaki disease Alpha-n-acetylgalactosaminidase deficiency Schindler disease type I Schindler disease type III
NCF4	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PRODH	Hyperprolinemia, type I
SCARF2	Van den Ende-Gupta syndrome
SCO2	Myopia 6 Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Hypertrophic cardiomyopathy
SERPIND1	Heparin cofactor II deficiency
SHANK3	Phelan-McDermid syndrome Schizophrenia
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10	Waardenburg syndrome, type 4C Waardenburg syndrome, type 2E Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Hirschsprung disease, susceptibility to, 10
SPECC1L	Facial clefting, oblique, 1 Opitz GBBB syndrome, type II
TBX1	Conotruncal anomaly face syndrome Tetralogy of Fallot
TCN2	Transcobalamin II deficiency
TIMP3	Sorsby fundus dystrophy
TNFRSF13C	Immunodeficiency, common variable 4
TRIOBP	Deafness, autosomal recessive 28
TUBA8	Polymicrogyria with optic nerve hypoplasia
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPK3A	Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 227
Number of Genes: 64

Export to: CSV

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A4GALT
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	muestra2_s1	22	rs6002904 dbSNP Clinvar	43089055	2027.98	G	C	PASS	0/1	156	SYNONYMOUS_CODING	LOW	None	0.69529	0.69530	0.34674				None None	None None None None	A4GALT\|0.02220674\|73.08%
	View	muestra2_s1	22	.	43089747	220.24	A	G	LowQD;SB	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None				0.39	0.00		None None	None None None None	A4GALT\|0.02220674\|73.08%
ACO2
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	muestra2_s1	22	rs137831 dbSNP Clinvar	41903813	4348.88	A	C	PASS	1/1	149	SYNONYMOUS_CODING	LOW	None	0.41833	0.41830	0.25796				None None	None None None None	ACO2\|0.657906877\|9.8%
ADORA2A
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	muestra2_s1	22	rs5751876 dbSNP Clinvar	24837301	1945.62	T	C	PASS	0/1	142	SYNONYMOUS_CODING	LOW	None	0.44229	0.44230	0.48193				None None	None None None None	ADORA2A\|0.246666916\|31.87%
APOBEC3B
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	muestra2_s1	22	rs1065184 dbSNP Clinvar	39387558	2311.6	C	T	PASS	1/1	74	SYNONYMOUS_CODING	LOW	None			0.48365				None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	muestra2_s1	22	rs5995649 dbSNP Clinvar	39382079	5330.5	C	A	PASS	1/1	171	NON_SYNONYMOUS_CODING	MODERATE	None	0.94968	0.94970	0.04888	1.00	0.00		None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	muestra2_s1	22	rs2076111 dbSNP Clinvar	39381999	1351.49	T	C	PASS	0/1	117	SYNONYMOUS_CODING	LOW	None							None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	muestra2_s1	22	rs2076109 dbSNP Clinvar	39381826	1808.6	A	G	PASS	0/1	145	NON_SYNONYMOUS_CODING	MODERATE	None	0.64117	0.64120	0.39427	0.77	0.00		None None	None None None None	APOBEC3B\|0.000325736\|99.32%
APOBEC3H
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	muestra2_s1	22	rs139302 dbSNP Clinvar	39498038	828.3	G	C	PASS	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	None	0.51558	0.51560	0.42911	0.23	0.01		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	muestra2_s1	22	rs139298 dbSNP Clinvar	39497452	1317.29	A	G	PASS	0/1	107	NON_SYNONYMOUS_CODING	MODERATE	None	0.52975	0.52980	0.42496	1.00	0.01		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	muestra2_s1	22	rs139297 dbSNP Clinvar	39497404	1197.8	G	C	PASS	0/1	88	NON_SYNONYMOUS_CODING	MODERATE	None	0.52476	0.52480	0.42050	1.00	0.00		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	muestra2_s1	22	rs139294 dbSNP Clinvar	39496412	1060.23	G	C	PASS	0/1	76	SYNONYMOUS_CODING	LOW	None	0.51478	0.51480	0.43995				None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	muestra2_s1	22	rs139300 dbSNP Clinvar	39497509	2346.56	A	G	PASS	1/1	74	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	1.00000	1.00000		1.00	0.00		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	muestra2_s1	22	rs139299 dbSNP Clinvar	39497454	1339.95	G	C	PASS	0/1	107	NON_SYNONYMOUS_CODING	MODERATE	None	0.52975	0.52980	0.42365	0.04	0.40		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	muestra2_s1	22	rs139293 dbSNP Clinvar	39496336	1075.78	G	T	PASS	0/1	92	NON_SYNONYMOUS_CODING	MODERATE	None	0.20168	0.20170	0.20898	0.02	0.49		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	muestra2_s1	22	rs140936762,rs201177427,rs139292 dbSNP Clinvar	39496322	1896.56	TAAC	T	PASS	0/1	85	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.31749	0.31750	0.32481				None None	None None None None	APOBEC3H\|0.000715686\|97.18%
APOL1
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	muestra2_s1	22	rs2239785 dbSNP Clinvar	36661330	3108.84	G	A	PASS	1/1	97	NON_SYNONYMOUS_CODING	MODERATE	None	0.67812	0.67810	0.34715	0.16	0.89		None None	None None None None	APOL1\|0.000329557\|99.31%
	View	muestra2_s1	22	rs136175 dbSNP Clinvar	36661566	1626.38	G	A	PASS	1/1	46	NON_SYNONYMOUS_CODING	MODERATE	None	0.86422	0.86420	0.15308	0.04	0.00		None None	None None None None	APOL1\|0.000329557\|99.31%
	View	muestra2_s1	22	rs136176 dbSNP Clinvar	36661646	1746.3	G	A	PASS	1/1	53	NON_SYNONYMOUS_CODING	MODERATE	None	0.86262	0.86260	0.15101	1.00	0.00		None None	None None None None	APOL1\|0.000329557\|99.31%
	View	muestra2_s1	22	rs136177 dbSNP Clinvar	36661842	2518.9	G	A	PASS	1/1	73	SYNONYMOUS_CODING	LOW	None	0.85324	0.85320	0.16023				None None	None None None None	APOL1\|0.000329557\|99.31%
	View	muestra2_s1	22	rs136174 dbSNP Clinvar	36661536	1413.81	C	A	PASS	1/1	44	SYNONYMOUS_CODING	LOW	None	0.86422	0.86420	0.15324				None None	None None None None	APOL1\|0.000329557\|99.31%
APOL3