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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCB5, ABCD1, ABHD17A, AC008132.13, AC009892.10, ACSL1, ADAM21, ADAMTS7, AGAP7, AHNAK2, AKR1C4, AL359195.1, AMY2A, ANAPC1, ANKRD20A4, ANKRD36, ANKRD36C, ANLN, AP003062.1, AQP7, ARSD, ASAH1, BMP8B, BRD9, BST1, C1QTNF9B, C1orf106, C22orf42, C4orf50, C5orf60, C6orf10, CABLES2, CBS, CBWD1, CCDC144A, CCDC40, CCDC74A, CD8B, CDC27, CELA2B, CEP120, CFTR, CGB7, CHL1, CNTNAP3B, CRIPAK, CST2, CTAGE4, CTBP2, CTDSP2, CYP2A13, CYP2A6, CYP4F2, CYP4F31P, DARC, DDX60, DDX60L, DRD5, DSPP, DUSP15, EEA1, EFCAB11, EP400, EVPLL, EYS, FAM104B, FAM131C, FAM136A, FAM205A, FAM21C, FAM27E1, FAM27E2, FAM76B, FAM86B1, FAM86C1, FAM8A1, FCGBP, FER1L6, FFAR3, FGF6, FKBP1A, FOXD4L1, FOXD4L6, FRG1, FRG1B, FRG2B, FRG2C, FUK, FUT5, FYB, GBP7, GGT1, GGT5, GLDC, GNAQ, GOLGA6L2, GOLGA6L4, GOLGA6L6, GPX1, GTF2IRD1, GXYLT1, HIST1H2BK, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQA2, HLA-DQB2, HLA-DRB1, HNRNPCL1, HRNR, HS6ST1, HSPD1, HTT, HYDIN, IFITM3, IFNL3, IGFN1, IGHV3-11, IGHV3-21, IGHV3-64, IGHV4-28, IGHV4-31, IGHV4-4, IGHV5-51, IGHV7-81, IGKV1D-16, IGSF3, IRS1, IVL, KANK2, KCNJ12, KIAA1551, KIF7, KIR2DL1, KIR2DL3, KIR2DS4, KIR3DL3, KLF7, KLHL23, KMT2C, KRT86, KRTAP1-1, KRTAP10-2, KRTAP2-3, KRTAP4-11, KRTAP4-8, KRTAP9-2, LILRA2, LILRA4, LILRA6, LILRB2, LILRB4, LPA, LSS, MAP2K3, METTL15, MUC12, MUC16, MUC17, MUC2, MUC20, MUC21, MUC3A, MUC4, MUC5B, MUC6, MZT2A, NANOG, NBPF1, NBPF10, NBPF12, NBPF14, NBPF15, NBPF16, NBPF20, NBPF9, NF2, NOTCH2NL, NPIPB15, NPY4R, NRAP, NT5C3A, NUDT10, NUTM2D, NXPE1, OBSCN, OR10H1, OR10H5, OR4C5, OR4N4, OR51Q1, OR8B2, OR8B3, ORM1, OTOP1, PABPC1, PABPC3, PAK2, PCMTD1, PDE4DIP, PDIA3, PER3, PI4KA, PIK3C2G, PIK3CG, PKD1L2, PLEKHG4B, PLIN4, PMS2, POLR2J3, POM121L7, POTEC, POTED, POTEF, POTEG, POTEJ, PPIAL4G, PPP1R36, PRAMEF1, PRAMEF26, PRKRA, PRR21, PRSS1, PRSS3, PSAPL1, PSG3, PSG5, QDPR, RASA4, RBMX, RBMXL1, RETSAT, REXO1L1P, RGPD4, RGPD8, RHOBTB2, RIMBP3, RP11-166B2.1, RP11-683L23.1, RP11-830F9.6, RPL3, RPL34, RPS15, RPSA, RRBP1, SAA2, SBSN, SEC24D, SEC31A, SFTPA1, SIRPA, SLC2A3, SLC9B1P1, SNAPC2, SPTA1, SREK1IP1, STEAP1, SUPT5H, SVIL, SYT15, TAS2R30, TAS2R31, TAS2R46, TBC1D10B, TBC1D29, TBC1D3B, TBC1D3G, TBP, TCEAL5, TDG, TEKT4, TESPA1, TEX12, TEX40, THSD7A, TMEM116, TMPRSS5, TNFRSF10C, TOPBP1, TPSAB1, TPSD1, TPTE, TPTE2, TRBV4-2, TRBV6-5, TRBV7-1, TRIM42, TRIM5, TRIM64B, TSPAN16, TTLL3, TTN, TUBA3D, TUBB8P7, TXNDC2, UNC93B1, USP6, USP8, UTP20, VCX, VN1R4, VWF, WDR24, WFDC3, ZKSCAN3, ZNF12, ZNF141, ZNF366, ZNF595, ZNF676, ZNF705A, ZNF717, ZNF746, ZNF804A, ZNRF4,

+ Genes associated with diseases 58

Genes at Omim

ABCD1, AKR1C4, ANLN, AQP7, ASAH1, CBS, CCDC40, CEP120, CFTR, CYP2A6, DRD5, DSPP, EYS, FYB, GGT1, GLDC, GNAQ, GPX1, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, HS6ST1, HSPD1, HTT, HYDIN, IFITM3, IFNL3, IGSF3, IRS1, KANK2, KIF7, KMT2C, KRT86, LPA, LSS, MUC5B, NF2, NT5C3A, PER3, PI4KA, PMS2, PRKRA, PRSS1, QDPR, RBMX, RHOBTB2, RPSA, SEC24D, SPTA1, TBP, TTN, TUBA3D, UNC93B1, USP8, VWF, ZNF141,

ABCD1	Adrenoleukodystrophy, 300100 (3) Adrenomyeloneuropathy, adult, 300100 (3)
AKR1C4	{46XY sex reversal 8, modifier of}, 614279 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
AQP7	[Glycerol quantitative trait locus], 614411 (3)
ASAH1	Farber lipogranulomatosis, 228000 (3) Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
CBS	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) Thrombosis, hyperhomocysteinemic, 236200 (3)
CCDC40	Ciliary dyskinesia, primary, 15, 613808 (3)
CEP120	Joubert syndrome 31, 617761 (3) Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (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)
CYP2A6	{Lung cancer, resistance to}, 211980 (3) Coumarin resistance, 122700 (3) {Nicotine addiction, protection from}, 188890 (3)
DRD5	{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3) {Blepharospasm, primary benign}, 606798 (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)
EYS	Retinitis pigmentosa 25, 602772 (3)
FYB	Thrombocytopenia 3, 273900 (3)
GGT1	?Glutathioninuria, 231950 (3)
GLDC	Glycine encephalopathy, 605899 (3)
GNAQ	Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3) Sturge-Weber syndrome, somatic, mosaic, 185300 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
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)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HS6ST1	{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
HSPD1	Leukodystrophy, hypomyelinating, 4, 612233 (3) Spastic paraplegia 13, autosomal dominant, 605280 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IFITM3	{Influenza, severe, susceptibility to}, 614680 (3)
IFNL3	{Hepatitis C virus infection, response to therapy of}, 609532 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
IRS1	{Coronary artery disease, susceptibility to} (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KANK2	Nephrotic syndrome, type 16, 617783 (3) Palmoplantar keratoderma and woolly hair, 616099 (3)
KIF7	Acrocallosal syndrome, 200990 (3) Joubert syndrome 12, 200990 (3) ?Hydrolethalus syndrome 2, 614120 (3) ?Al-Gazali-Bakalinova syndrome, 607131 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
KRT86	Monilethrix, 158000 (3)
LPA	[LPA deficiency, congenital] (3) {Coronary artery disease, susceptibility to} (1)
LSS	Cataract 44, 616509 (3) Hypotrichosis 14, 618275 (3)
MUC5B	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
NF2	Meningioma, NF2-related, somatic, 607174 (3) Neurofibromatosis, type 2, 101000 (3) Schwannomatosis, somatic, 162091 (3)
NT5C3A	Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
PER3	?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PI4KA	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (3)
PRKRA	Dystonia 16, 612067 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
QDPR	Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RBMX	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RHOBTB2	Epileptic encephalopathy, early infantile, 64, 618004 (3)
RPSA	Asplenia, isolated congenital, 271400 (3)
SEC24D	Cole-Carpenter syndrome 2, 616294 (3)
SPTA1	Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (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)
TUBA3D	Keratoconus 9, 617928 (3)
UNC93B1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USP8	Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
VWF	von Willebrand disease, type 1, 193400 (3) von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3) von Willibrand disease, type 3, 277480 (3)
ZNF141	?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ABCD1, ANLN, ASAH1, CBS, CCDC40, CEP120, CFTR, CYP2A6, CYP4F2, DSPP, EYS, GLDC, HLA-A, HLA-B, HS6ST1, HSPD1, HTT, IFNL3, IGSF3, KANK2, KIF7, KRT86, LPA, LSS, NF2, NT5C3A, PER3, PI4KA, PMS2, PRKRA, PRSS1, QDPR, RBMX, RPSA, SPTA1, TBP, TTN, UNC93B1, VWF, ZNF141,

ABCD1	Adrenoleukodystrophy
ANLN	Focal segmental glomerulosclerosis 8
ASAH1	Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy
CBS	Homocystinuria due to cystathionine beta-synthase deficiency
CCDC40	Ciliary dyskinesia, primary, 15
CEP120	Short-rib thoracic dysplasia 13 with or without polydactyly
CFTR	Cystic fibrosis
CYP2A6	CYP2A6-related drug metabolism
CYP4F2	Warfarin metabolism
DSPP	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
EYS	Retitinis pigmentosa 25
GLDC	Glycine encephalopathy
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HS6ST1	Hypogonadotropic hypogonadism 15, with or without anosmia
HSPD1	Spastic paraplegia-13 Leukodystrophy, hypomyelinating, 4
HTT	Huntington disease
IFNL3	Drug metabolism, IL28B-related
IGSF3	Lacrimal duct defect
KANK2	Palmoplantar keratoderma and woolly hair
KIF7	Hydrolethalus syndrome 2 Acrocallosal syndrome Joubert syndrome 12 Al-Gazali-Bakalinova syndrome
KRT86	Monilethrix
LPA	Lipoprotein A deficiency, congenital
LSS	Cataract 44
NF2	Neurofibromatosis type II Schwannomatosis 2
NT5C3A	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
PER3	Advanced sleep phase syndrome, familial, 3
PI4KA	Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer syndrome
PRKRA	Dystonia 16
PRSS1	Pancreatitis, hereditary
QDPR	Hyperphenylalaninemia, BH4-deficient, C
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
RPSA	Asplenia, isolated congenital
SPTA1	Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2
TBP	Spinocerebellar ataxia 17
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
UNC93B1	Herpes simplex encephalitis, susceptibility to, 1
VWF	von Willebrand disease, type 1 von Willebrand disease, type 2A von Willebrand disease, type 3
ZNF141	Postaxial polydactyly type A, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 1476
Number of Genes: 316

Export to: CSV

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ABCB5
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	el-exome_s1	7	rs117497357 dbSNP Clinvar	20768077	32.46	A	T	LowQD	0/1	17	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.01398	0.01398	0.03360	0.94	0.00		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	el-exome_s1	7	rs10254317 dbSNP Clinvar	20768013	106.56	G	A	LowQD	0/1	57	SYNONYMOUS_CODING	LOW	None	0.59605	0.59600	0.47801				None None	None None None None	ABCB5\|0.12579132\|46.5%
ABCD1
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	el-exome_s1	X	rs201878013 dbSNP Clinvar	153006093	58.78	A	G	LowQD	0/1	67	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	ABCD1\|0.05959621\|59.98%
	View	el-exome_s1	X	rs78993751 dbSNP Clinvar	153008483	162.99	G	A	LowQD	0/1	89	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	ABCD1\|0.05959621\|59.98%
	View	el-exome_s1	X	rs201774661 dbSNP Clinvar	153008476	159.99	T	C	LowQD	0/1	93	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.86		None None	None None None None	ABCD1\|0.05959621\|59.98%
	View	el-exome_s1	X	rs201114595 dbSNP Clinvar	153006092	58.78	C	T	LowQD	0/1	67	STOP_GAINED	HIGH	None							None None	None None None None	ABCD1\|0.05959621\|59.98%
ABHD17A
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	el-exome_s1	19	.	1881530	168.73	G	A	LowQD	0/1	86	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABHD17A\|0.044405191\|64.37%
AC008132.13
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	el-exome_s1	22	rs75722191 dbSNP Clinvar	18835163	562.77	G	A	LowQD	0/1	295	NON_SYNONYMOUS_CODING	MODERATE	None				0.17	0.01		None None	None None None None	None
AC009892.10
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	el-exome_s1	19	rs35869117 dbSNP Clinvar	55147504	54.28	T	C	LowQD	0/1	28	SYNONYMOUS_CODING	LOW	None	0.09225	0.09225					None None	None None None None	LILRB1\|0.00078612\|96.76%
ACSL1
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	el-exome_s1	4	rs1803898 dbSNP Clinvar	185701549	92.47	G	T	LowQD	0/1	51	SYNONYMOUS_CODING	LOW	None	0.16074	0.16070	0.24704				None None	None None None None	ACSL1\|0.105455707\|50.16%
ADAM21
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	el-exome_s1	14	rs58247196 dbSNP Clinvar	70924450	50.14	C	T	LowQD	0/1	35	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAM21\|0.009866102\|80.97%
ADAMTS7
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	el-exome_s1	15	rs201636673 dbSNP Clinvar	79058375	34.57	A	G	LowQD	0/1	39	NON_SYNONYMOUS_CODING	MODERATE	None				0.25	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	el-exome_s1	15	rs201462332 dbSNP Clinvar	79058378	34.57	A	G	LowQD	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None				0.81	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	el-exome_s1	15	rs199823022 dbSNP Clinvar	79058339	37.58	A	C	LowQD	0/1	43	NON_SYNONYMOUS_CODING	MODERATE	None				0.48	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
AGAP7
Omim - GeneCards - NCBI