Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
ABAT, ABCC10, ABCC4, AC024592.12, ACAT2, AKR1C4, AL645922.1, ANKRD36, APOBEC3H, ARFGAP3, ARHGEF37, ARL2, ASAH1, BRWD3, BTNL2, C10ORF68, C16orf71, C18orf64, C1orf204, C20orf173, C2orf76, C2orf80, C5AR1, C5orf45, C7orf63, C9orf96, CALCA, CAMKK1, CAPN14, CD109, CDH23, CELA1, CENPU, CEP63, CEP85, CHAF1A, CHAT, CILP, COL5A2, COL5A3, CPA6, CR1, CRTAM, CTC1, CYP20A1, DBNDD2, DDX27, DHODH, DHRS1, DKKL1, DLL3, DNAH10, DNAH11, DNAH14, DNAH9, DNPEP, DSCAML1, ECE1, EFCAB4A, EIF2A, EMG1, EMR1, EPHA1, EXD3, FAM129C, FER1L6, FOCAD, GALNTL5, GALP, GANC, GCKR, GIPR, GSN, GYPA, GYPE, HAP1, HEATR5A, HEG1, HHLA1, HIF3A, HLA-B, HLA-C, ICAM3, IFI35, IGF2BP3, IGSF5, INTS7, IRAK3, IRF7, ITGA8, JUP, KIAA1731, KIF15, KIF4A, KIR2DS4, KLK4, KRT27, LAMC3, LGALS8, LMLN, LPCAT1, LRP1, LRRK2, LY75-CD302, MALT1, MAMDC4, MAP2K3, MDH1B, MINK1, MROH2B, MSH3, MUC13, MUC2, MYH15, MYO3A, MYOM1, MYOM2, NAAA, NAV1, NBPF3, NCAPD2, NLE1, NME8, NRCAM, NUP62CL, PDE4DIP, PGLYRP3, PKHD1, PLA2G4D, PLXND1, PM20D1, PNPLA1, POMGNT1, PPCDC, PRAME, PRSS3, PTF1A, R3HDM1, RCL1, ROCK2, RPAP1, RPGRIP1, S100A7L2, SAA1, SBNO2, SEC14L6, SLC12A1, SLC15A5, SLC25A41, SLC39A4, SLC5A4, SLU7, SPG11, STAB1, SYNRG, TAF1B, TAPT1, TMEM175, TMEM45B, TNK1, TNNT1, TPCN2, TPR, TPTE, TRIM69, TRPA1, TTC16, TTN, TULP3, UBA1, ULK3, UVSSA, VPS54, VWA3B, WDR46, WDR78, YIPF1, ZAN, ZBBX, ZBP1, ZC3HAV1, ZDHHC11, ZDHHC13, ZFYVE26, ZNF177, ZNF286B, ZNF695,

+ Genes associated with diseases 56

Genes at Omim

ABAT, ACAT2, AKR1C4, ASAH1, BRWD3, BTNL2, CDH23, CEP63, CHAT, CILP, COL5A2, CPA6, CR1, CTC1, DHODH, DLL3, DNAH11, DNAH9, ECE1, EMG1, GCKR, GIPR, GSN, GYPA, HLA-B, HLA-C, IRAK3, IRF7, ITGA8, JUP, KIF4A, KLK4, LAMC3, LRP1, LRRK2, MALT1, MSH3, MYO3A, NCAPD2, NME8, PNPLA1, POMGNT1, PTF1A, RPGRIP1, SLC12A1, SLC39A4, SPG11, TAPT1, TNNT1, TPCN2, TRPA1, TTN, UBA1, UVSSA, VWA3B, ZFYVE26,

ABAT	GABA-transaminase deficiency, 613163 (3)
ACAT2	?ACAT2 deficiency, 614055 (1)
AKR1C4	{46XY sex reversal 8, modifier of}, 614279 (3)
ASAH1	Farber lipogranulomatosis, 228000 (3) Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BRWD3	Mental retardation, X-linked 93, 300659 (3)
BTNL2	{Sarcoidosis, susceptibility to, 2}, 612387 (3)
CDH23	Deafness, autosomal recessive 12, 601386 (3) {Pituitary adenoma 5, multiple types}, 617540 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3)
CEP63	?Seckel syndrome 6, 614728 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CILP	{Lumbar disc disease, susceptibility to}, 603932 (3)
COL5A2	Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
CPA6	Febrile seizures, familial, 11, 614418 (3) Epilepsy, familial temporal lobe, 5, 614417 (3)
CR1	CR1 deficiency (1) {Malaria, severe, resistance to}, 611162 (3) [Blood group, Knops system], 607486 (3) {?SLE susceptibility} (1)
CTC1	Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DHODH	Miller syndrome, 263750 (3)
DLL3	Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH9	Ciliary dyskinesia, primary, 40, 618300 (3)
ECE1	{Hypertension, essential, susceptibility to}, 145500 (3) ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
EMG1	Bowen-Conradi syndrome, 211180 (3)
GCKR	[Fasting plasma glucose level QTL 5], 613463 (3)
GIPR	[Plasma glucose, 2-hour, QTL 2] (2)
GSN	Amyloidosis, Finnish type, 105120 (3)
GYPA	{Malaria, resistance to}, 611162 (3) [Blood group, MNSs system], 111300 (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)
IRAK3	{Asthma susceptibility 5}, 611064 (3)
IRF7	?Immunodeficiency 39, 616345 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
JUP	Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3)
KIF4A	?Mental retardation, X-linked 100, 300923 (3)
KLK4	Amelogenesis imperfecta, type IIA1, 204700 (3)
LAMC3	Cortical malformations, occipital, 614115 (3)
LRP1	?Keratosis pilaris atrophicans, 604093 (3)
LRRK2	{Parkinson disease 8}, 607060 (3)
MALT1	Immunodeficiency 12, 615468 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
NCAPD2	?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NME8	Ciliary dyskinesia, primary, 6, 610852 (3)
PNPLA1	Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) Retinitis pigmentosa 76, 617123 (3)
PTF1A	Pancreatic agenesis 2, 615935 (3) Pancreatic and cerebellar agenesis, 609069 (3)
RPGRIP1	Cone-rod dystrophy 13, 608194 (3) Leber congenital amaurosis 6, 613826 (3)
SLC12A1	Bartter syndrome, type 1, 601678 (3)
SLC39A4	Acrodermatitis enteropathica, 201100 (3)
SPG11	Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) Spastic paraplegia 11, autosomal recessive, 604360 (3)
TAPT1	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)
TNNT1	Nemaline myopathy 5, Amish type, 605355 (3)
TPCN2	[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TRPA1	?Episodic pain syndrome, familial, 1, 615040 (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)
UBA1	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
UVSSA	UV-sensitive syndrome 3, 614640 (3)
VWA3B	?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABAT, ASAH1, BRWD3, CDH23, CEP63, CHAT, COL5A2, CPA6, CR1, CTC1, DHODH, DLL3, DNAH11, ECE1, EMG1, GSN, GYPA, HLA-B, IRF7, ITGA8, JUP, KIF4A, KLK4, LAMC3, LRP1, LRRK2, MALT1, MSH3, MYO3A, NME8, PKHD1, PNPLA1, POMGNT1, PTF1A, RPGRIP1, SLC12A1, SLC39A4, SPG11, TNNT1, TPCN2, TRPA1, TTN, UBA1, UVSSA, VWA3B, ZFYVE26,

ABAT	GABA-transaminase deficiency
ASAH1	Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy
BRWD3	Mental retardation, X-linked 93
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
CEP63	Seckel syndrome 6
CHAT	Myasthenic syndrome, congenital 6, presynaptic
COL5A2	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
CPA6	Febrile seizures, familial, 11 Epilepsy, familial temporal lobe, 5
CR1	Blood group, Knops system
CTC1	Cerebroretinal microangiopathy with calcifications and cysts
DHODH	Postaxial acrofacial dysostosis (Miller syndrome)
DLL3	Spondylocostal dysostosis 1, autosomal recessive
DNAH11	Ciliary dyskinesia, primary, 7
ECE1	Hirschsprung disease, cardiac defects, and autonomic dysfunction
EMG1	Bowen-Conradi syndrome
GSN	Amyloidosis, Finnish type
GYPA	Blood group, MN locus Blood group, Erik
HLA-B	Drug-induced toxicity, susceptibility to
IRF7	Immunodeficiency 39
ITGA8	Renal agenesis, bilateral
JUP	Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease
KIF4A	Mental retardation, X-linked 100
KLK4	Amelogenesis imperfecta, type IIA1
LAMC3	Cortical malformations, occipital
LRP1	Schizophrenia
LRRK2	Parkinson disease 8 Dementia, Lewy body
MALT1	Immunodeficiency 12
MSH3	Endometrial carcinoma
MYO3A	Deafness, autosomal recessive 30
NME8	Ciliary dyskinesia, primary, 6
PKHD1	Polycystic kidney disease, autosomal recessive
PNPLA1	Ichthyosis, congenital, autosomal recessive 10
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PTF1A	Pancreatic and cerebellar agenesis Pancreatic agenesis 2
RPGRIP1	Leber congenital amaurosis 6 Cone-rod dystrophy 13
SLC12A1	Bartter syndrome, antenatal, type 1
SLC39A4	Acrodermatitis enteropathica
SPG11	Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11
TNNT1	Nemaline myopathy 5
TPCN2	Skin/hair/eye pigmentation, variation in, 10
TRPA1	Episodic pain syndrome, familial
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
UBA1	Spinal muscular atrophy, X-linked 2, infantile
UVSSA	UV-sensitive syndrome 3
VWA3B	Spinocerebellar ataxia, autosomal recessive 22
ZFYVE26	Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 194
Number of Genes: 187

Export to: CSV

Page 1 of 2
next

Page 1 of 2
next

ABAT
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	031_tsvc_variants	16	rs1731017 dbSNP Clinvar	8839954	220.532	A	G	PASS	0/1	103	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.50080	0.50080	0.48599	0.61	0.00		None None	None None None None	ABAT\|0.163825558\|41.04%
ABCC10
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	031_tsvc_variants	6	rs2125739 dbSNP Clinvar	43412865	488.062	T	C	PASS	0/1	197	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.20008	0.20010	0.27603	0.52	0.00		None None	None None None None	ABCC10\|0.125839341\|46.49%
ABCC4
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	031_tsvc_variants	13	rs2274407 dbSNP Clinvar	95859035	110.173	C	A	PASS	0/1	51	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.15056	0.15060	0.10457	0.00	0.20		None None	None None None None	ABCC4\|0.142494523\|44.07%
AC024592.12
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	031_tsvc_variants	19	rs778971 dbSNP Clinvar	5867748	768.94	G	T	PASS	0/1	322	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.63878	0.63880	0.46529	0.09	0.65		None None	None None None None	FUT5\|0.001156471\|94.68%
ACAT2
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	031_tsvc_variants	6	rs25683 dbSNP Clinvar	160196343	836.765	A	G	PASS	0/1	290	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.36522	0.36520	0.45433	0.04	0.82		None None	None None None None	ACAT2\|0.090493467\|53.12%
AKR1C4
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	031_tsvc_variants	10	rs17134592 dbSNP Clinvar	5260682	133.515	C	G	PASS	0/1	81	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.10244	0.10240	0.11426	0.25	0.00		None None	None None None None	AKR1C4\|0.002829069\|88.97%
AL645922.1
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	031_tsvc_variants	6	rs3891366 dbSNP Clinvar	31973973	19.8973	G	A	PASS	0/1	11	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.21725	0.21730			0.86		None None	None None None None	None
ANKRD36
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	031_tsvc_variants	2	rs10194525 dbSNP Clinvar	97877478	265.474	G	A	PASS	0/1	133	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.02	0.61		None None	None None None None	ANKRD36\|0.001192347\|94.46%
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	031_tsvc_variants	22	rs139300 dbSNP Clinvar	39497509	677.07	A	G	PASS	1/1	70	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%
ARFGAP3
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	031_tsvc_variants	22	rs1018448 dbSNP Clinvar	43206950	268.997	A	C	PASS	0/1	118	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.70188	0.70190	0.34669	0.79	0.00		None None	None None None None	ARFGAP3\|0.023747491\|72.32%