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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA7, ANAPC1, ANO7, ATP6V0A2, ATP8B1, B3GALTL, BPI, CACNA1S, CCM2, CDH12, CLEC2D, COL4A4, COL5A1, COL6A5, CSF1, CSMD1, CSMD3, CYB5A, DBH, DGCR6, DLG5, DNMT3B, DOCK9, DSP, FAM126A, FLNB, GPI, GRIK4, GRM6, HPS5, ITGA11, ITGA2B, ITGA4, ITPR1, KALRN, KLK3, KRT6A, KRT75, LRP2, MBTPS2, MEF2A, MYH13, MYO7A, NAV2, NBAS, NCAPD2, NCKAP1, NPC1, OBSL1, PDLIM3, PIEZO2, PKD1L1, PROM1, PXDN, RNF213, RYR3, SDHA, SGCG, SLC7A7, SMARCAD1, SNAPC4, SORBS1, SRGAP2, STOX1, STRC, SUPT16H, TEAD1, TNNI2, TNS3, TRDN, TRIO, VCAN, VWF, WDR19, WDR62,

+ Genes associated with diseases 48

Genes at Omim

ABCA7, ATP6V0A2, ATP8B1, CACNA1S, COL4A4, COL5A1, CYB5A, DBH, DNMT3B, DSP, FAM126A, FLNB, GPI, GRM6, HPS5, ITGA2B, ITPR1, KALRN, KRT6A, KRT75, LRP2, MBTPS2, MEF2A, MYO7A, NBAS, NCAPD2, NPC1, NPC1, OBSL1, PIEZO2, PKD1L1, PROM1, PXDN, RNF213, SDHA, SGCG, SLC7A7, SMARCAD1, STOX1, STRC, TEAD1, TNNI2, TRDN, TRIO, VCAN, VWF, WDR19, WDR62,

ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
ATP6V0A2	Cutis laxa, autosomal recessive, type IIA, 219200 (3) Wrinkly skin syndrome, 278250 (3)
ATP8B1	Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CACNA1S	{Malignant hyperthermia susceptibility 5}, 601887 (3) Hypokalemic periodic paralysis, type 1, 170400 (3) {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
COL5A1	Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
CYB5A	Methemoglobinemia and ambiguous genitalia, 250790 (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)
FAM126A	Leukodystrophy, hypomyelinating, 5, 610532 (3)
FLNB	Atelosteogenesis, type I, 108720 (3) Atelosteogenesis, type III, 108721 (3) Boomerang dysplasia, 112310 (3) Larsen syndrome, 150250 (3) Spondylocarpotarsal synostosis syndrome, 272460 (3)
GPI	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
GRM6	Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (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)
KALRN	{Coronary heart disease, susceptibility to, 5}, 608901 (3)
KRT6A	Pachyonychia congenita 3, 615726 (3)
KRT75	{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LRP2	Donnai-Barrow syndrome, 222448 (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)
MYO7A	Deafness, autosomal dominant 11, 601317 (3) Deafness, autosomal recessive 2, 600060 (3) Usher syndrome, type 1B, 276900 (3)
NBAS	Infantile liver failure syndrome 2, 616483 (3) Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
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)
OBSL1	3-M syndrome 2, 612921 (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)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PROM1	Cone-rod dystrophy 12, 612657 (3) Macular dystrophy, retinal, 2, 608051 (3) Retinitis pigmentosa 41, 612095 (3) Stargardt disease 4, 603786 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF213	{Moyamoya disease 2, susceptibility to}, 607151 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (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)
STOX1	Preeclampsia/eclampsia 4, 609404 (3)
STRC	Deafness, autosomal recessive 16, 603720 (3)
TEAD1	Sveinsson chorioretinal atrophy, 108985 (3)
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TRIO	Mental retardation, autosomal dominant 44, 617061 (3)
VCAN	Wagner syndrome 1, 143200 (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

ATP6V0A2, ATP8B1, CACNA1S, CCM2, COL4A4, COL5A1, CYB5A, DBH, DNMT3B, DSP, FAM126A, FLNB, GPI, GRIK4, GRM6, HPS5, ITGA2B, ITPR1, KRT6A, KRT75, LRP2, MBTPS2, MYO7A, NBAS, NPC1, OBSL1, PIEZO2, PROM1, PXDN, RNF213, SDHA, SGCG, SLC7A7, SMARCAD1, STRC, TEAD1, TNNI2, TRDN, VCAN, VWF, WDR19, WDR62,

ATP6V0A2	Cutis laxa, autosomal recessive, type IIA Wrinkly skin syndrome
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CACNA1S	Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1
CCM2	Cerebral cavernous malformations 2
COL4A4	Alport syndrome, autosomal recessive
COL5A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
CYB5A	46, XY disorder of sex development Methemoglobinemia, type IV
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
FAM126A	Leukodystrophy, hypomyelinating, 5
FLNB	Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III
GPI	Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
GRIK4	Response to antidepressant treatment with citalopram
GRM6	Night blindness, congenital stationary, type 1B
HPS5	Hermansky-Pudlak syndrome 5
ITGA2B	Glanzmann thrombasthenia
ITPR1	Spinocerebellar ataxia 15 Spinocerebellar ataxia 29
KRT6A	Pachyonychia congenita 3
KRT75	Pseudofolliculitis barbae
LRP2	Donnai-Barrow syndrome Faciooculoacousticorenal syndrome
MBTPS2	Keratosis follicularis spinulosa decalvans, X-linked IFAP syndrome with or without BRESHECK syndrome Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
MYO7A	Deafness, autosomal recessive 2 Usher syndrome, type 1B
NBAS	Infantile liver failure syndrome 2 Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D
OBSL1	Three M syndrome 2
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
PROM1	Cone-rod dystrophy 12 Macular dystrophy, retinal, 2 Stargardt disease 4 Retinitis pigmentosa 41
PXDN	Corneal opacification with other ocular anomalies
RNF213	Moyamoya disease 2
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SGCG	Muscular dystrophy, limb-girdle, type 2C
SLC7A7	Lysinuric protein intolerance
SMARCAD1	Adermatoglyphia
STRC	Deafness, autosomal recessive 16
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
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: 77
Number of Genes: 75

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	sec-2-18-7_filtered	19	rs881768 dbSNP Clinvar	1056065	7086.78	A	G	PASS	0/1	74	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.44209	0.44210	0.45937				None None	None None None None	ABCA7\|0.007770288\|82.8%
ANAPC1
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	sec-2-18-7_filtered	2	rs4848197 dbSNP Clinvar	112605302	1103.14	C	T	my_filter	1/1	6	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.56250	0.56250					None None	None None None None	ANAPC1\|0.14646446\|43.53%
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	sec-2-18-7_filtered	2	rs2074840 dbSNP Clinvar	242141719	5209.15	C	T	PASS	0/1	121	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.41474	0.41470	0.36491				None None	None None None None	ANO7\|0.004152604\|86.8%
ATP6V0A2
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	sec-2-18-7_filtered	12	rs7135542 dbSNP Clinvar	124229429	14537.45	T	C	PASS	1/1	70	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.79952	0.79950	0.30463				None None	None None None None	ATP6V0A2\|0.124260234\|46.77%
ATP8B1
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	sec-2-18-7_filtered	18	rs319438 dbSNP Clinvar	55364852	9168.45	A	G	PASS	1/1	46	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.99461	0.99460	0.00692				None None	None None None None	ATP8B1\|0.161108429\|41.4%
B3GALTL
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	sec-2-18-7_filtered	13	rs4943266 dbSNP Clinvar	31821992	6025.62	T	C	PASS	1/1	42	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.97544	0.97540	0.03601				None None	None None None None	B3GALTL\|0.110722838\|49.06%
BPI
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	sec-2-18-7_filtered	20	rs5743507 dbSNP Clinvar	36939052	2554.62	G	C	PASS	0/1	136	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.05571	0.05571	0.08388				None None	None None None None	BPI\|0.001345673\|93.63%
CACNA1S
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	sec-2-18-7_filtered	1	rs2297902 dbSNP Clinvar	201035071	1301.62	G	A	PASS	0/1	63	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.05391	0.05391	0.01238				None None	None None None None	CACNA1S\|0.323841456\|25.88%
CCM2
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	sec-2-18-7_filtered	7	rs2289367 dbSNP Clinvar	45113170	7343.78	G	A	PASS	1/1	111	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.21985	0.21980	0.22736				None None	None None None None	CCM2\|0.292416184\|28.19%
CDH12
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	sec-2-18-7_filtered	5	rs17839323 dbSNP Clinvar	21842436	4675.49	A	G	PASS	0/1	80	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.06090	0.06090	0.04882				None None	None None None None	CDH12\|0.569953447\|12.98%