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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA7, ABCC5, ADAM15, ADCY8, ANO7, AP3B1, APCDD1L, AQPEP, ARHGAP26, ARHGAP33, ARID4B, ARMC3, ASGR2, ASIC5, ATP8B1, ATP8B3, B3GALTL, BIN3, C10orf53, C17orf49, CABP5, CAPN2, CBWD1, CCDC144NL, CCDC88C, CCND1, CDK2AP2, CELA3B, CEP89, CHAF1A, CLEC2D, CNOT6, COG3, COL16A1, COL4A4, COL5A3, COPE, CSF1, CSMD1, CSNK1G1, DBH, DGKA, DNASE2B, DNMT3B, DOCK9, DSP, DTX4, DYRK4, EHMT2, EI24, EIF4B, ELMSAN1, EMR3, ENTPD2, ERGIC3, FAM124B, FAM3B, FCRL5, FHAD1, FKBP2, FMNL2, FRG1, GAB4, GABRP, GAREML, GCOM1, GDPD2, GEMIN5, GKN1, GNG8, GPATCH1, GPR75-ASB3, GRIK4, GTPBP10, HAUS6, HCLS1, HEG1, HLA-C, HLA-DRB1, HPS5, IMMT, IRF2, ITGA1, ITGA11, ITGA2B, ITGA4, ITGA5, ITPR1, KIAA1549L, KIAA1586, KIAA1731, KLK3, KRT75, LENG8, LGI4, LPHN3, LRP1, LRP1B, LRRC16A, MAST1, MAT2B, MBTPS2, MEF2A, MGAM, MLF1, MRO, MRPL30, MYH13, MYO1B, MYOM1, NAAA, NAV2, NCAPD2, NCKAP1, NDNF, NEK10, NEURL4, NID2, NPC1, NTPCR, NUP85, ODF2, PCSK5, PDLIM3, PGS1, PI4KA, PIEZO2, PIH1D1, PIWIL4, PKN2, PLAC8L1, PLD2, PLXNA2, POLR2A, PPIH, PPP1R9B, PRRG2, PSG8, PTK2B, PVRL4, RAP1GAP2, REC8, RIC3, RMDN1, RNF212, RPAIN, RPP21, RYR3, SCAF8, SGCG, SIRPA, SLC22A7, SLC7A11, SLC7A7, SLCO4C1, SMARCAD1, SMARCAL1, SNX1, SORBS1, SPATA4, SPEF2, SRGAP2, SUPT16H, TEAD1, TELO2, TMEM184B, TMX1, TNNI2, TOM1, TRDN, TROAP, TRPM5, TTC40, UBR5, USO1, VAV3, VCAN, VPS37A, VPS8, VWF, WDR19, WDR62, ZC3H11A, ZFAND5, ZNF419, ZNF609, ZNF720,

+ Genes associated with diseases 42

Genes at Omim

ABCA7, AP3B1, ARHGAP26, ATP8B1, CCDC88C, CCND1, COL4A4, DBH, DNMT3B, DSP, HLA-C, HLA-DRB1, HPS5, ITGA2B, ITPR1, KRT75, LGI4, LRP1, MAST1, MBTPS2, MEF2A, MLF1, NCAPD2, NPC1, NPC1, NUP85, PI4KA, PIEZO2, RNF212, SGCG, SLC7A7, SMARCAD1, SMARCAL1, TEAD1, TELO2, TNNI2, TRDN, VCAN, VPS37A, VWF, WDR19, WDR62,

ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
AP3B1	Hermansky-Pudlak syndrome 2, 608233 (3)
ARHGAP26	Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ATP8B1	Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CCDC88C	Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3)
CCND1	{Multiple myeloma, susceptibility to}, 254500 (3) {von Hippel-Lindau syndrome, modifier of}, 193300 (3) {Colorectal cancer, susceptibility to}, 114500 (3)
COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
DBH	Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DSP	Arrhythmogenic right ventricular dysplasia 8, 607450 (3) Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) Epidermolysis bullosa, lethal acantholytic, 609638 (3) Keratosis palmoplantaris striata II, 612908 (3) Skin fragility-woolly hair syndrome, 607655 (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HPS5	Hermansky-Pudlak syndrome 5, 614074 (3)
ITGA2B	Glanzmann thrombasthenia, 273800 (3) Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITPR1	Gillespie syndrome, 206700 (3) Spinocerebellar ataxia 15, 606658 (3) Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KRT75	{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LGI4	Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LRP1	?Keratosis pilaris atrophicans, 604093 (3)
MAST1	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBTPS2	IFAP syndrome with or without BRESHECK syndrome, 308205 (3) Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3) Osteogenesis imperfecta, type XIX, 301014 (3) ?Olmsted syndrome, X-linked, 300918 (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLF1	Leukemia, acute myeloid, 601626 (1)
NCAPD2	?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NPC1	Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3)
NPC1	{Nasopharyngeal carcinoma 1} (2)
NUP85	Nephrotic syndrome, type 17, 618176 (3)
PI4KA	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PIEZO2	Arthrogryposis, distal, type 3, 114300 (3) Arthrogryposis, distal, type 5, 108145 (3) Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) ?Marden-Walker syndrome, 248700 (3)
RNF212	Recombination rate QTL 1, 612042 (3)
SGCG	Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC7A7	Lysinuric protein intolerance, 222700 (3)
SMARCAD1	Adermatoglyphia, 136000 (3) Basan syndrome, 129200 (3) Huriez syndrome, 181600 (3)
SMARCAL1	Schimke immunoosseous dysplasia, 242900 (3)
TEAD1	Sveinsson chorioretinal atrophy, 108985 (3)
TELO2	You-Hoover-Fong syndrome, 616954 (3)
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
VCAN	Wagner syndrome 1, 143200 (3)
VPS37A	Spastic paraplegia 53, autosomal recessive, 614898 (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)
WDR19	Nephronophthisis 13, 614377 (3) ?Cranioectodermal dysplasia 4, 614378 (3) ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3) Senior-Loken syndrome 8, 616307 (3)
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

AP3B1, ATP8B1, CCDC88C, COL4A4, DBH, DNMT3B, DSP, GRIK4, HPS5, ITGA2B, ITPR1, KRT75, LRP1, MBTPS2, NPC1, PI4KA, PIEZO2, SGCG, SLC7A7, SMARCAD1, SMARCAL1, TEAD1, TNNI2, TRDN, VCAN, VPS37A, VWF, WDR19, WDR62,

AP3B1	Hermansky-Pudlak syndrome 2
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CCDC88C	Spinocerebellar ataxia 40
COL4A4	Alport syndrome, autosomal recessive
DBH	Dopamine beta-hydroxylase deficiency
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DSP	Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
GRIK4	Response to antidepressant treatment with citalopram
HPS5	Hermansky-Pudlak syndrome 5
ITGA2B	Glanzmann thrombasthenia
ITPR1	Spinocerebellar ataxia 15 Spinocerebellar ataxia 29
KRT75	Pseudofolliculitis barbae
LRP1	Schizophrenia
MBTPS2	Keratosis follicularis spinulosa decalvans, X-linked IFAP syndrome with or without BRESHECK syndrome Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D
PI4KA	Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
SGCG	Muscular dystrophy, limb-girdle, type 2C
SLC7A7	Lysinuric protein intolerance
SMARCAD1	Adermatoglyphia
SMARCAL1	Schimke immunoosseous dysplasia
TEAD1	Sveinsson choreoretinal atrophy
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
VCAN	Wagner syndrome 1
VPS37A	Spastic paraplegia 53, autosomal recessive
VWF	von Willebrand disease, type 1 von Willebrand disease, type 2A von Willebrand disease, type 3
WDR19	Short-rib thoracic dysplasia 5 with or without polydactyly Cranioectodermal dysplasia 4 Nephronophthisis 13 Retinitis pigmentosa Senior-Loken syndrome 8
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Genes at HGMD

Summary

Number of Variants: 191
Number of Genes: 187

Export to: CSV

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ABCA7
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	allfamilies AWI	19	rs881768 dbSNP Clinvar	1056065	2404.78	A	G	PASS	0/1	144	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.44209	0.44210	0.45937				None None	None None None None	ABCA7\|0.007770288\|82.8%
ABCC5
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	allfamilies AWI	3	rs7636910 dbSNP Clinvar	183699516	158.61	T	C	PASS	0/1	58	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.33427	0.33430	0.34194				None None	None None None None	ABCC5\|0.264803016\|30.31%
ADAM15
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	allfamilies AWI	1	rs11589479 dbSNP Clinvar	155033308	1972.04	G	A	PASS	0/1	166	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.07508	0.07508	0.12279				None None	None None None None	ADAM15\|0.077192579\|55.85%
ADCY8
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	allfamilies AWI	8	rs12547243 dbSNP Clinvar	131921956	1373.39	A	G	PASS	1/1	115	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.54473	0.54470	0.42642				None None	None None None None	ADCY8\|0.569570608\|13.01%
ANO7
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	allfamilies AWI	2	rs2074840 dbSNP Clinvar	242141719	158.921	C	T	PASS	1/1	7	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.41474	0.41470	0.36491				None None	None None None None	ANO7\|0.004152604\|86.8%
AP3B1
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	allfamilies AWI	5	rs4532349 dbSNP Clinvar	77473165	205.89	A	G	PASS	0/1	53	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.14277	0.14280	0.18714				None None	None None None None	AP3B1\|0.638758531\|10.5%
APCDD1L
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	allfamilies AWI	20	rs1980576 dbSNP Clinvar	57045667	1343.73	T	C	PASS	1/1	54	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.45986	0.45990	0.43048				None None	None None None None	APCDD1L\|0.016982669\|75.86%
AQPEP
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	allfamilies AWI	5	rs10078748 dbSNP Clinvar	115341611	599.69	G	T	PASS	1/1	66	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.77676	0.77680	0.18315				None None	None None None None	None
ARHGAP26
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	allfamilies AWI	5	rs258819 dbSNP Clinvar	142593652	1991.0	C	T	PASS	0/1	135	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.99641	0.99640	0.00377				None None	None None None None	ARHGAP26\|0.689373516\|8.81%
ARHGAP33
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	allfamilies AWI	19	rs62112163 dbSNP Clinvar	36275074	286.53	G	A	PASS	0/1	64	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.18331	0.18330	0.15949				None None	None None None None	ARHGAP33\|0.074124913\|56.5%