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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC6, ACSF3, ACSM2A, ACSM2B, ADAMTS18, ADCY9, AHSP, ANKRD11, ATP2A1, AXIN1, BBS2, BCMO1, CACNA1H, CCL22, CD19, CDH1, CDH13, CDH3, CDT1, CETP, CIITA, CLCN7, CNGB1, CNTNAP4, COG4, COG8, COX4I1, CRYM, CYBA, DHODH, DNAAF1, DOC2A, EARS2, EEF2K, FA2H, FUS, GALNS, GAN, GCSH, GFER, GLIS2, GP2, GPR139, GPR56, GSE1, GSPT1, HSD11B2, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, ITGAD, ITGAM, JPH3, KIF22, LMF1, MAF, MEFV, MMP2, MT1A, MYH11, NAGPA, NOD2, PHLPP2, PKD1, PLCG2, PRDM7, PRKCB, PRM1, PRMT7, PRRT2, RBFOX1, RPGRIP1L, SALL1, SCNN1G, SLC12A3, SLC5A11, SLC6A2, SLX4, SMG1, SOX8, SRCAP, SSTR5, SULT1A1, SULT1A2, TAF1C, TAT, TMEM8A, TOX3, TPSAB1, TPSB2, TPSD1, UBE2I, UMOD, UNKL, VPS35, WWOX, XYLT1, ZFHX3, ZFP90, ZNF469,

+ Genes associated with diseases 67

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSF3, ADAMTS18, ANKRD11, ATP2A1, AXIN1, BBS2, CACNA1H, CD19, CDH1, CDH3, CDT1, CETP, CIITA, CLCN7, CNGB1, COG4, COG8, CRYM, CYBA, DHODH, DNAAF1, EARS2, FA2H, FUS, GALNS, GAN, GCSH, GFER, GLIS2, HSD11B2, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, JPH3, KIF22, LMF1, MAF, MEFV, MMP2, MYH11, NOD2, PKD1, PLCG2, PRMT7, PRRT2, RPGRIP1L, SALL1, SCNN1G, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, TAT, UMOD, VPS35, WWOX, XYLT1, ZFHX3, ZNF469,

AARS	Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABAT	GABA-transaminase deficiency, 613163 (3)
ABCA3	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCC11	[Axillary odor, variation in], 117800 (3) [Colostrum secretion, variation in], 117800 (3) [Earwax, wet/dry], 117800 (3)
ABCC6	Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ACSF3	Combined malonic and methylmalonic aciduria, 614265 (3)
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
ANKRD11	KBG syndrome, 148050 (3)
ATP2A1	Brody myopathy, 601003 (3)
AXIN1	Hepatocellular carcinoma, somatic, 114550 (3) ?Caudal duplication anomaly, 607864 (3)
BBS2	Bardet-Biedl syndrome 2, 615981 (3) Retinitis pigmentosa 74, 616562 (3)
CACNA1H	Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CD19	Immunodeficiency, common variable, 3, 613493 (3)
CDH1	Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3) Blepharocheilodontic syndrome 1, 119580 (3) Endometrial carcinoma, somatic, 608089 (3) {Prostate cancer, susceptibility to}, 176807 (3) Ovarian cancer, somatic, 167000 (3) {Breast cancer, lobular}, 114480 (3)
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3) Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDT1	Meier-Gorlin syndrome 4, 613804 (3)
CETP	Hyperalphalipoproteinemia, 143470 (3) [High density lipoprotein cholesterol level QTL 10], 143470 (3)
CIITA	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3)
CLCN7	Osteopetrosis, autosomal dominant 2, 166600 (3) Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1	Retinitis pigmentosa 45, 613767 (3)
COG4	Congenital disorder of glycosylation, type IIj, 613489 (3) Saul-Wilson syndrome, 618150 (3)
COG8	Congenital disorder of glycosylation, type IIh, 611182 (3)
CRYM	Deafness, autosomal dominant 40, 616357 (3)
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
DHODH	Miller syndrome, 263750 (3)
DNAAF1	Ciliary dyskinesia, primary, 13, 613193 (3)
EARS2	Combined oxidative phosphorylation deficiency 12, 614924 (3)
FA2H	Spastic paraplegia 35, autosomal recessive, 612319 (3)
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3) Essential tremor, hereditary, 4, 614782 (3)
GALNS	Mucopolysaccharidosis IVA, 253000 (3)
GAN	Giant axonal neuropathy-1, 256850 (3)
GCSH	?Glycine encephalopathy, 605899 (3)
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
GLIS2	Nephronophthisis 7, 611498 (3)
HSD11B2	Apparent mineralocorticoid excess, 218030 (3)
HSD3B7	Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IFT140	Retinitis pigmentosa 80, 617781 (3) Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
IGFALS	Acid-labile subunit, deficiency of, 615961 (3)
IL4R	{AIDS, slow progression to}, 609423 (3) {Atopy, susceptibility to}, 147050 (3)
JPH3	Huntington disease-like 2, 606438 (3)
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LMF1	Lipase deficiency, combined, 246650 (3)
MAF	Ayme-Gripp syndrome, 601088 (3) Cataract 21, multiple types, 610202 (3)
MEFV	Familial Mediterranean fever, AD, 134610 (3) Familial Mediterranean fever, AR, 249100 (3)
MMP2	Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MYH11	Aortic aneurysm, familial thoracic 4, 132900 (3)
NOD2	Blau syndrome, 186580 (3) {Inflammatory bowel disease 1, Crohn disease}, 266600 (3) {Psoriatic arthritis, susceptibility to}, 607507 (2) {Yao syndrome}, 617321 (3)
PKD1	Polycystic kidney disease 1, 173900 (3)
PLCG2	Familial cold autoinflammatory syndrome 3, 614468 (3) Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PRMT7	Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)
PRRT2	Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) Episodic kinesigenic dyskinesia 1, 128200 (3) Seizures, benign familial infantile, 2, 605751 (3)
RPGRIP1L	COACH syndrome, 216360 (3) Joubert syndrome 7, 611560 (3) Meckel syndrome 5, 611561 (3)
SALL1	Townes-Brocks branchiootorenal-like syndrome, 107480 (3) Townes-Brocks syndrome 1, 107480 (3)
SCNN1G	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) Liddle syndrome 2, 618114 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SLC12A3	Gitelman syndrome, 263800 (3)
SLC6A2	?Orthostatic intolerance, 604715 (3)
SLX4	Fanconi anemia, complementation group P, 613951 (3)
SRCAP	Floating-Harbor syndrome, 136140 (3)
SSTR5	Somatostatin analog, resistance to (3)
TAT	Tyrosinemia, type II, 276600 (3)
UMOD	Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) Hyperuricemic nephropathy, familial juvenile 1, 162000 (3) Medullary cystic kidney disease 2, 603860 (3)
VPS35	{Parkinson disease 17}, 614203 (3)
WWOX	Epileptic encephalopathy, early infantile, 28, 616211 (3) Esophageal squamous cell carcinoma, somatic, 133239 (3) Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)
XYLT1	Desbuquois dysplasia 2, 615777 (3) {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSF3, ADAMTS18, ANKRD11, ATP2A1, AXIN1, BBS2, CD19, CDH1, CDH3, CDT1, CETP, CIITA, CLCN7, CNGB1, COG4, COG8, CRYM, CYBA, DHODH, DNAAF1, EARS2, FA2H, FUS, GALNS, GAN, GCSH, GFER, GLIS2, HSD11B2, HSD3B7, IFT140, IGFALS, JPH3, KIF22, LMF1, MAF, MEFV, MMP2, MYH11, NOD2, PKD1, PLCG2, PRRT2, RPGRIP1L, SALL1, SCNN1G, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, TAT, UMOD, VPS35, WWOX, XYLT1, ZNF469,

AARS	Charcot-Marie-Tooth disease, axonal, type 2N Epileptic encephalopathy, early infantile, 29
ABAT	GABA-transaminase deficiency
ABCA3	Surfactant metabolism dysfunction, pulmonary, 3 Interstitial lung disease
ABCC11	Apocrine gland secretion, variation in
ABCC6	Pseudoxanthoma elasticum
ACSF3	Combined malonic and methylmalonic aciduria
ADAMTS18	Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive
ANKRD11	KBG syndrome
ATP2A1	Brody myopathy
AXIN1	Caudal duplication anomaly
BBS2	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
CD19	Immunodeficiency, common variable 3
CDH1	CDH1-related cancer
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1	Meier-Gorlin syndrome 4
CETP	Hyperalphalipoproteinemia 1
CIITA	Bare lymphocyte syndrome, type II
CLCN7	Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4
CNGB1	Retinitis pigmentosa 45
COG4	Congenital disorder of glycosylation, type IIj
COG8	Congenital disorder of glycosylation, type IIh
CRYM	Deafness, autosomal dominant 40
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DHODH	Postaxial acrofacial dysostosis (Miller syndrome)
DNAAF1	Ciliary dyskinesia, primary, 13
EARS2	Combined oxidative phosphorylation deficiency 12
FA2H	Spastic paraplegia 35, autosomal recessive
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia Essential tremor
GALNS	Mucopolysaccharidosis IVA (Morquio syndrome A)
GAN	Giant axonal neuropathy 1, autosomal recessive
GCSH	Glycine encephalopathy
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GLIS2	Nephronophthisis 7
HSD11B2	Cortisol 11-beta-ketoreductase deficiency
HSD3B7	Bile acid synthesis defect, congenital, 1
IFT140	Short-rib thoracic dysplasia 9 with or without polydactyly
IGFALS	Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
JPH3	Huntington disease-like 2
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LMF1	Combined lipase deficiency
MAF	Ayme-Gripp syndrome
MEFV	Familial Mediterranean fever
MMP2	Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy
MYH11	Aortic aneurysm, familial thoracic 4
NOD2	Blau syndrome Sarcoidosis, early-onset
PKD1	Polycystic kidney disease, adult type I
PLCG2	Familial cold autoinflammatory syndrome 3 (PLAID) Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2	Episodic kinesigenic dyskinesia 1
RPGRIP1L	Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Retinal degeneration in ciliopathy, modifier of
SALL1	Townes-Brocks syndrome
SCNN1G	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SLC12A3	Gitelman syndrome
SLC6A2	Orthostatic intolerance
SLX4	Fanconi anemia type P
SRCAP	Floating-Harbor syndrome
SSTR5	Resistance to somatostatin treatment
TAT	Tyrosinemia, type II
UMOD	Familial juvenile hyperuricemic nephropathy Glomerulocystic kidney disease with hyperuricemia and isosthenuria
VPS35	Parkinson disease 17
WWOX	Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12
XYLT1	Desbuquois dysplasia 2
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 995
Number of Genes: 107

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AARS
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	exome_all	16	rs4081753 dbSNP Clinvar	70287177	0.0	A	G	PASS	1/1	82	SYNONYMOUS_CODING	LOW	None	0.88119	0.88120	0.15082				None None	None None None None	AARS\|0.341353977\|24.74%
	View	exome_all	16	rs2070203 dbSNP Clinvar	70303580	0.0	G	A	PASS	0/1	115	SYNONYMOUS_CODING	LOW	None	0.42532	0.42530	0.49077				None None	None None None None	AARS\|0.341353977\|24.74%
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	exome_all	16	rs1641022 dbSNP Clinvar	8868776	0.0	C	A	PASS	0/1	61	SYNONYMOUS_CODING	LOW	None	0.31749	0.31750	0.32261				None None	None None None None	ABAT\|0.163825558\|41.04%
ABCA3
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	exome_all	16	rs149532 dbSNP Clinvar	2331430	0.0	A	G	PASS	0/1	64	SYNONYMOUS_CODING	LOW	None	0.90096	0.90100	0.13058				None None	None None None None	ABCA3\|0.043607901\|64.64%
ABCC1
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	exome_all	16	rs35605 dbSNP Clinvar	16162019	0.0	T	C	PASS	0/1	151	SYNONYMOUS_CODING	LOW	None	0.78654	0.78650	0.15359				None None	None None None None	ABCC1\|0.091540799\|52.94%
ABCC11
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	exome_all	16	rs16945974 dbSNP Clinvar	48256602	0.0	T	C	PASS	0/1	127	SYNONYMOUS_CODING	LOW	None	0.13419	0.13420	0.14700				None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	exome_all	16	rs16945916 dbSNP Clinvar	48201432	0.0	T	C	PASS	0/1	104	NON_SYNONYMOUS_CODING	MODERATE	None	0.17013	0.17010	0.22581	1.00	0.00		None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	exome_all	16	rs12443685 dbSNP Clinvar	48226479	0.0	C	T	PASS	0/1	36	SYNONYMOUS_CODING	LOW	None	0.13638	0.13640	0.14821				None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	exome_all	16	rs16945988 dbSNP Clinvar	48265777	0.0	C	T	PASS	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.11002	0.11000	0.12792	0.00	0.00		None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	exome_all	16	rs8047091 dbSNP Clinvar	48248918	0.0	T	C	PASS	0/1	26	SYNONYMOUS_CODING	LOW	None	0.16993	0.16990	0.21051				None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	exome_all	16	rs11866251 dbSNP Clinvar	48227862	0.0	G	A	PASS	0/1	55	SYNONYMOUS_CODING	LOW	None	0.13878	0.13880	0.18766				None None	None None None None	ABCC11\|0.006558104\|83.99%
ABCC6
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	exome_all	16	rs9930886 dbSNP Clinvar	16291983	0.0	A	G	PASS	0/1	47	SYNONYMOUS_CODING	LOW	None	0.28275	0.28270	0.31330				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	exome_all	16	rs9940825 dbSNP Clinvar	16291971	0.0	C	T	PASS	0/1	53	SYNONYMOUS_CODING	LOW	None	0.23223	0.23220	0.30603				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	exome_all	16	rs7500834 dbSNP Clinvar	16272670	0.0	T	C	PASS	1/1	35	SYNONYMOUS_CODING	LOW	None	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	exome_all	16	rs6416668 dbSNP Clinvar	16271357	0.0	T	C	PASS	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.96426	0.96430	0.03556	0.29	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
ACSF3
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	exome_all	16	rs6500526 dbSNP Clinvar	89167395	0.0	C	T	PASS	1/1	40	SYNONYMOUS_CODING	LOW	None	0.61901	0.61900	0.27585				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	exome_all	16	rs7193255 dbSNP Clinvar	89167404	0.0	T	C	PASS	1/1	40	SYNONYMOUS_CODING	LOW	None	0.61981	0.61980	0.27532				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	exome_all	16	rs12447947 dbSNP Clinvar	89199651	0.0	G	A	PASS	1/1	58	SYNONYMOUS_CODING	LOW	None	0.14537	0.14540	0.26277				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	exome_all	16	rs3743979 dbSNP Clinvar	89180883	0.0	G	A	PASS	1/1	129	NON_SYNONYMOUS_CODING	MODERATE	None	0.62959	0.62960	0.29186	0.10	0.63		None None	None None None None	ACSF3\|0.012049699\|79.2%