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Genes:
ABLIM3, AC005609.1, AC026703.1, AC136604.1, AC138517.1, ACSL6, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRB2, AGXT2, AHRR, AMACR, ANKDD1B, ANKH, ANKRD31, ANKRD33B, ANKRD34B, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, BDP1, BHMT, BHMT2, BOD1, BRD8, BRD9, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf17, C5orf20, C5orf22, C5orf34, C5orf38, C5orf45, C5orf46, C5orf52, C5orf55, C5orf56, C5orf58, C5orf60, C5orf64, C5orf66, C6, C7, CAMK2A, CAMK4, CAPSL, CARD6, CAST, CATSPER3, CCDC125, CCDC127, CCDC69, CCNI2, CCT5, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH9, CDHR2, CDX1, CEP120, CEP72, CETN3, CHD1, CHSY3, CMBL, CMYA5, CNOT6, COL23A1, COMMD10, CSF1R, CSF2, CTD-2215E18.1, CTD-2228K2.5, CTXN3, CXCL14, CYFIP2, DAP, DBN1, DCP2, DDX4, DDX41, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DND1, DOCK2, DOK3, DRD1, DROSHA, DUSP1, EBF1, EGFLAM, ELL2, ENC1, EPB41L4A, EPB41L4A-AS2, ERAP1, ERAP2, ERBB2IP, EXOC3, F12, F2RL1, FAM114A2, FAM134B, FAM13B, FAM151B, FAM153A, FAM153B, FAM170A, FAM173B, FAM174A, FAM193B, FAM196B, FAM81B, FASTKD3, FAT2, FBN2, FBXL17, FBXL21, FBXO38, FBXO4, FER, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FSTL4, FYB, GABRA6, GABRB2, GABRG2, GALNT10, GCNT4, GDF9, GEMIN5, GFM2, GFPT2, GHR, GIN1, GLRX, GM2A, GNB2L1, GNPDA1, GPBP1, GPR151, GPR98, GPRIN1, GPX3, GPX8, GRAMD3, GRM6, GRXCR2, GZMA, GZMK, HAPLN1, HARS, HAVCR1, HAVCR2, HDAC3, HEXB, HIGD2A, HK3, HMGCS1, HMGXB3, HMMR, HSD17B4, HSPA9, HSPB3, IL3, IL31RA, IPO11, IQGAP2, IRF1, IRX1, IRX4, ISL1, ISOC1, ITGA1, ITGA2, JMY, KCNIP1, KCNMB1, KCNN2, KDM3B, KIAA0141, KIAA0825, KIAA0947, KIF3A, KIF4B, KLHL3, LARS, LCP2, LECT2, LHFPL2, LIFR, LMBRD2, LPCAT1, LRRC14B, LRRC70, LYSMD3, MAML1, MAN2A1, MAP1B, MAP3K1, MAST4, MBLAC2, MCC, MCCC2, MCTP1, MEGF10, MFAP3, MROH2B, MRPS30, MSH3, MSX2, MTRR, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKD2, NLN, NMUR2, NOP16, NPR3, NREP, NSA2, NSD1, NSUN2, NUDT12, NUP155, OR2V2, OR2Y1, OTP, OXCT1, PAM, PAPD7, PARP8, PCDH12, PCDHA1, PCDHA10, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB10, PCDHB11, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB2, PCDHGB3, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC5, PCSK1, PDCD6, PDE8B, PDLIM4, PDLIM7, PDZD2, PELO, PIK3R1, PITX1, PJA2, PKD2L2, PLEKHG4B, PLK2, POC5, PPIP5K2, PPP2R2B, PPWD1, PRDM6, PRELID1, PROB1, PROP1, PRR16, PRRC1, PTTG1, PWWP2A, RAI14, RANBP3L, RAPGEF6, RARS, RASGEF1C, RASGRF2, REEP5, RGMB, RGS7BP, RHOBTB3, RICTOR, RIOK2, RMND5B, RNF180, RNF44, RP11-404L6.2, RP11-45H22.3, RPS23, RUFY1, S100Z, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPT8, SETD9, SFXN1, SH3PXD2B, SH3RF2, SH3TC2, SHROOM1, SIL1, SLC12A2, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC30A5, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SNX2, SOWAHA, SOX30, SPATA24, SPEF2, SPINK5, SPINK6, SPINK9, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1IP1, SSBP2, STC2, STK10, STK32A, SV2C, TCERG1, TCF7, TENM2, TERT, TGFBI, THBS4, THG1L, TIGD6, TIMD4, TMCO6, TMEM161B, TMEM171, TMEM173, TNFAIP8, TNIP1, TNPO1, TPPP, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRPC7, TSPAN17, TSSK1B, UGT3A1, UIMC1, UTP15, VCAN, WDR36, WDR41, WDR55, WNT8A, WWC1, YTHDC2, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZNF131, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZRSR1, ZSWIM6,

+ Genes associated with diseases 104

Genes at Omim

ACSL6, ADAMTS2, ADRB2, AGXT2, AMACR, ANKH, AP3B1, APC, ARHGAP26, ARSB, BDP1, C6, C7, CAMK2A, CAST, CCT5, CEP120, CHD1, CSF1R, CYFIP2, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, FYB, GABRB2, GABRG2, GDF9, GHR, GM2A, GRM6, GRXCR2, HARS, HEXB, HMMR, HSD17B4, HSPA9, HSPB3, IL31RA, IRF1, ITGA2, KCNMB1, KLHL3, LARS, LIFR, MAP3K1, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NPR3, NSD1, NSUN2, NUP155, OXCT1, PCDH12, PCSK1, PDE8B, PIK3R1, PITX1, PPP2R2B, PRDM6, PROP1, RARS, RPS23, SDHA, SH3PXD2B, SH3TC2, SIL1, SLC22A4, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SLC9A3, SPINK5, SQSTM1, TERT, TGFBI, TMEM173, TRIM36, TRIO, VCAN, WDR36, WWC1, ZSWIM6,

ACSL6	Myelodysplastic syndrome (3) Myelogenous leukemia, acute (3)
ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to (3) {Obesity, susceptibility to}, 601665 (3) {Asthma, nocturnal, susceptibility to}, 600807 (3)
AGXT2	[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
AMACR	Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3)
ANKH	Chondrocalcinosis 2, 118600 (3) Craniometaphyseal dysplasia, 123000 (3)
AP3B1	Hermansky-Pudlak syndrome 2, 608233 (3)
APC	Adenoma, periampullary, somatic (3) Adenomatous polyposis coli, 175100 (3) Gardner syndrome, 175100 (3) Gastric cancer, somatic, 613659 (3) Brain tumor-polyposis syndrome 2, 175100 (3) Hepatoblastoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Desmoid disease, hereditary, 135290 (3)
ARHGAP26	Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
BDP1	?Deafness, autosomal recessive 112, 618257 (3)
C6	C6 deficiency, 612446 (3) Combined C6/C7 deficiency (3)
C7	C7 deficiency, 610102 (3)
CAMK2A	Mental retardation, autosomal dominant 53, 617798 (3) ?Mental retardation, autosomal recessive 63, 618095 (3)
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CEP120	Joubert syndrome 31, 617761 (3) Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
CHD1	Pilarowski-Bjornsson syndrome, 617682 (3)
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CYFIP2	Epileptic encephalopathy, early infantile, 65, 618008 (3)
DDX41	{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DMGDH	Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2	Immunodeficiency 40, 616433 (3)
F12	Factor XII deficiency, 234000 (3) Angioedema, hereditary, type III, 610618 (3)
FAM134B	Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAT2	Spinocerebellar ataxia 45, 617769 (3)
FBN2	Contractural arachnodactyly, congenital, 121050 (3) Macular degeneration, early-onset, 616118 (3)
FBXO38	Neuronopathy, distal hereditary motor, type IID, 615575 (3)
FGFR4	{Cancer progression/metastasis} (3)
FLT4	Hemangioma, capillary infantile, somatic, 602089 (3) Lymphatic malformation 1, 153100 (3)
FOXI1	Enlarged vestibular aqueduct, 600791 (3)
FYB	Thrombocytopenia 3, 273900 (3)
GABRB2	Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
GABRG2	Febrile seizures, familial, 8, 611277 (3) Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3) {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3)
GDF9	?Premature ovarian failure 14, 618014 (3)
GHR	{Hypercholesterolemia, familial, modifier of}, 143890 (3) Growth hormone insensitivity, partial, 604271 (3) Increased responsiveness to growth hormone, 604271 (3) Laron dwarfism, 262500 (3)
GM2A	GM2-gangliosidosis, AB variant, 272750 (3)
GRM6	Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
GRXCR2	?Deafness, autosomal recessive 101, 615837 (3)
HARS	Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3) Usher syndrome type 3B, 614504 (3)
HEXB	Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HMMR	{Breast cancer, susceptibility to}, 114480 (3)
HSD17B4	D-bifunctional protein deficiency, 261515 (3) Perrault syndrome 1, 233400 (3)
HSPA9	Anemia, sideroblastic, 4, 182170 (3) Even-plus syndrome, 616854 (3)
HSPB3	?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IL31RA	?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IRF1	Gastric cancer, somatic, 613659 (3) Myelodysplastic syndrome, preleukemic (3) Myelogenous leukemia, acute (3) Nonsmall cell lung cancer, somatic, 211980 (3)
ITGA2	?Glycoprotein Ia deficiency, 614200 (1)
KCNMB1	{Hypertension, diastolic, resistance to}, 608622 (3)
KLHL3	Pseudohypoaldosteronism, type IID, 614495 (3)
LARS	?Infantile liver failure syndrome 1, 615438 (3)
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MEGF10	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MSX2	Craniosynostosis 2, 604757 (3) Parietal foramina 1, 168500 (3) Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTRR	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYOT	Myopathy, myofibrillar, 3, 609200 (3) Myopathy, spheroid body, 182920 (3)
NDST1	Mental retardation, autosomal recessive 46, 616116 (3)
NDUFAF2	Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
NDUFS4	Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NIPAL4	Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NPR3	?Hypertension, salt-resistant (1)
NSD1	Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3)
NSUN2	Mental retardation, autosomal recessive 5, 611091 (3)
NUP155	?Atrial fibrillation 15, 615770 (3)
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1	{Obesity, susceptibility to, BMIQ12}, 612362 (3) Obesity with impaired prohormone processing, 600955 (3)
PDE8B	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3) Striatal degeneration, autosomal dominant, 609161 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3) Liebenberg syndrome, 186550 (4)
PPP2R2B	Spinocerebellar ataxia 12, 604326 (3)
PRDM6	Patent ductus arteriosus 3, 617039 (3)
PROP1	Pituitary hormone deficiency, combined, 2, 262600 (3)
RARS	Leukodystrophy, hypomyelinating, 9, 616140 (3)
RPS23	Brachycephaly, trichomegaly, and developmental delay, 617412 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SH3PXD2B	Frank-ter Haar syndrome, 249420 (3)
SH3TC2	Charcot-Marie-Tooth disease, type 4C, 601596 (3) Mononeuropathy of the median nerve, mild, 613353 (3)
SIL1	Marinesco-Sjogren syndrome, 248800 (3)
SLC22A4	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5	Carnitine deficiency, systemic primary, 212140 (3)
SLC26A2	Atelosteogenesis, type II, 256050 (3) Achondrogenesis Ib, 600972 (3) De la Chapelle dysplasia, 256050 (3) Diastrophic dysplasia, 222600 (3) Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3) Epiphyseal dysplasia, multiple, 4, 226900 (3)
SLC36A2	Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3)
SLC45A2	Albinism, oculocutaneous, type IV, 606574 (3) [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19	Hartnup disorder, 234500 (3) Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3)
SLC6A3	{Nicotine dependence, protection against}, 188890 (3) Parkinsonism-dystonia, infantile, 1, 613135 (3)
SLC9A3	Diarrhea 8, secretory sodium, congenital, 616868 (3)
SPINK5	Netherton syndrome, 256500 (3)
SQSTM1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3) Myopathy, distal, with rimmed vacuoles, 617158 (3) Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3) Paget disease of bone 3, 167250 (3)
TERT	{Leukemia, acute myeloid}, 601626 (3) {Melanoma, cutaneous malignant, 9}, 615134 (3) {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3) {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3) {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
TGFBI	Corneal dystrophy, Avellino type, 607541 (3) Corneal dystrophy, Groenouw type I, 121900 (3) Corneal dystrophy, Reis-Bucklers type, 608470 (3) Corneal dystrophy, Thiel-Behnke type, 602082 (3) Corneal dystrophy, epithelial basement membrane, 121820 (3) Corneal dystrophy, lattice type I, 122200 (3) Corneal dystrophy, lattice type IIIA, 608471 (3)
TMEM173	STING-associated vasculopathy, infantile-onset, 615934 (3)
TRIM36	?Anencephaly, 206500 (3)
TRIO	Mental retardation, autosomal dominant 44, 617061 (3)
VCAN	Wagner syndrome 1, 143200 (3)
WDR36	Glaucoma 1, open angle, G, 609887 (3)
WWC1	[Memory, enhanced, QTL], 615602 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AMACR, ANKH, AP3B1, APC, ARSB, C6, C7, CAST, CCT5, CEP120, CSF1R, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GABRG2, GHR, GM2A, GRM6, GRXCR2, HARS, HEXB, HSD17B4, HSPA9, HSPB3, IL31RA, KLHL3, LARS, LIFR, MAP3K1, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NSD1, NUP155, OXCT1, PCSK1, PDE8B, PIK3R1, PITX1, PPP2R2B, PROP1, RARS, SDHA, SH3PXD2B, SH3TC2, SIL1, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SPINK5, SQSTM1, TERT, TGFBI, TMEM173, VCAN, ZSWIM6,

ADAMTS2	Ehlers-Danlos syndrome, type VII
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to
AMACR	Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency
ANKH	Craniometaphyseal dysplasia Chondrocalcinosis 2
AP3B1	Hermansky-Pudlak syndrome 2
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
C6	Complement component 6 deficiency
C7	Complement component 7 deficiency
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia
CEP120	Short-rib thoracic dysplasia 13 with or without polydactyly
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids
DDX41	Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DMGDH	Dimethylglycine dehydrogenase deficiency
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2	Immunodeficiency 40
F12	Angioedema, hereditary, type III
FAM134B	Neuropathy, hereditary sensory and autonomic, type IIB
FBN2	Congenital contractural arachnodactyly (Beals syndrome)
FBXO38	Neuronopathy, distal hereditary motor, type IID
FLT4	Lymphedema, hereditary I (Milory disease)
FOXI1	Enlarged vestibular aqueduct Pendred syndrome
GABRG2	Dravet syndrome Generalized epilepsy with febrile seizures plus, type 3 Familial febrile seizures 8 Epilepsy, childhood absence, susceptibility to, 2
GHR	Growth hormone insensitivity syndrome (Laron syndrome)
GM2A	GM2-gangliosidosis, AB variant
GRM6	Night blindness, congenital stationary, type 1B
GRXCR2	Deafness, autosomal recessive 101
HARS	Usher syndrome, type 3B
HEXB	Sandhoff disease
HSD17B4	Perrault syndrome
HSPA9	Anemia, sideroblastic 4
HSPB3	Neuronopathy, distal hereditary motor, type IIC
IL31RA	Amyloidois, primary localized cutaneous, 2
KLHL3	Pseudohypoaldosteronism, type IID
LARS	Infantile liver failure syndrome 1
LIFR	Stuve-Wiedemann syndrome
MAP3K1	46,XY sex reversal 6
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency
MEGF10	Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MSH3	Endometrial carcinoma
MSX2	Craniosynostosis, type 2 Parietal foramina with cleidocranial dysplasia Parietal foramina 1
MTRR	Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT	Myopathy, myofibrillar, 3
NDST1	Mental retardation, autosomal recessive 46
NDUFAF2	Mitochondrial complex I deficiency Leigh syndrome
NDUFS4	Mitochondrial complex I deficiency Leigh syndrome
NDUFS6	Mitochondrial complex I deficiency
NIPAL4	Ichthyosis, congenital, autosomal recessive
NSD1	Sotos syndrome Weaver syndrome Beckwith-Wiedemann syndrome
NUP155	Atrial fibrillation 15
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency
PCSK1	Proprotein convertase 1/3 deficiency
PDE8B	Pigmented nodular adrenocortical disease, primary, 3
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome
PPP2R2B	Spinocerebellar ataxia 12
PROP1	Pituitary hormone deficiency, combined, 2
RARS	Leukodystrophy, hypomyelinating 9
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SH3PXD2B	Frank-ter Haar syndrome
SH3TC2	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild
SIL1	Marinesco-Sjogren syndrome
SLC22A5	Carnitine deficiency, systemic primary
SLC26A2	Achondrogenesis, type IB Atelosteogenesis II De la Chapelle dysplasia Diastrophic dysplasia Epiphyseal dysplasia, multiple, 4
SLC36A2	Hyperglycinuria Iminoglycinuria Iminoglycinuria, digenic
SLC45A2	Oculocutaneous albinism, type IV Skin/hair/eye pigmentation 5
SLC6A19	Hartnup disease
SLC6A3	Parkinsonism-dystonia, infantile
SPINK5	Netherton syndrome
SQSTM1	Paget disease of bone 3
TERT	Aplastic anemia Dyskeratosis congenita, autosomal dominant Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
TGFBI	Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane
TMEM173	STING-associated vasculopathy, infantile-onsent (SAVI)
VCAN	Wagner syndrome 1
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 5172
Number of Genes: 465

Export to: CSV

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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	013 final	5	rs965821 dbSNP Clinvar	122137708	1707.77	A	G	PASS	1/1	53	None	None	None	0.64457	0.64460	0.39895				None None	None None None None	SNX2\|0.676815558\|9.18%
	View	013 final	5	rs32952 dbSNP Clinvar	80021445	454.77	A	C	PASS	0/1	31	None	None	None	0.31590	0.31590					None None	None None None None	MSH3\|0.44757189\|18.27%
MSH3
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	013 final	5	rs184967 dbSNP Clinvar	80149981	1555.77	A	G	PASS	1/1	49	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.90216	0.90220	0.14478	1.00	0.00		None None	None None None None	MSH3\|0.44757189\|18.27%
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	013 final	5	rs148303058 dbSNP Clinvar	748681	2750.77	A	G	PASS	0/1	184	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%,ZDHHC11B\|0.000513161\|98.37%
	View	013 final	5	rs3817058 dbSNP Clinvar	748776	1615.77	A	G	PASS	0/1	85	None	None	None	0.20288	0.20290					None None	None None None None	ZDHHC11\|0.000483764\|98.54%,ZDHHC11B\|0.000513161\|98.37%
	View	013 final	5	rs3817057 dbSNP Clinvar	748816	741.77	A	G	PASS	0/1	57	None	None	None	0.13319	0.13320					None None	None None None None	ZDHHC11\|0.000483764\|98.54%,ZDHHC11B\|0.000513161\|98.37%
	View	013 final	5	rs436541 dbSNP Clinvar	745275	3361.77	A	T	PASS	1/1	108	None	None	None	0.85723	0.85720					None None	None None None None	ZDHHC11\|0.000483764\|98.54%,ZDHHC11B\|0.000513161\|98.37%
	View	013 final	5	rs3817052 dbSNP Clinvar	748851	1067.77	A	C	PASS	0/1	39	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%,ZDHHC11B\|0.000513161\|98.37%
GFPT2
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	013 final	5	rs73343449 dbSNP Clinvar	179734200	394.77	A	G	PASS	0/1	37	SYNONYMOUS_CODING	LOW	SILENT	0.20148	0.20150	0.22526				None None	None None None None	GFPT2\|0.124871701\|46.65%
	View	013 final	5	rs1035411 dbSNP Clinvar	179729519	5806.77	A	G	PASS	1/1	190	SYNONYMOUS_CODING	LOW	SILENT	0.71126	0.71130	0.34791				None None	None None None None	GFPT2\|0.124871701\|46.65%
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	013 final	5	rs3817051 dbSNP Clinvar	748855	1024.77	A	C	PASS	0/1	37	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%,ZDHHC11B\|0.000513161\|98.37%
ZDHHC11B
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	013 final	5	rs1809932 dbSNP Clinvar	767033	11897.77	A	C	PASS	1/1	370	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.77895	0.77900		0.02	0.07		None None	None None None None	ZDHHC11\|0.000483764\|98.54%,ZDHHC11B\|0.000513161\|98.37%
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	013 final	5	rs200391461 dbSNP Clinvar	796229	207.77	A	G	MG_SNP_Filter	0/1	389	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs185073 dbSNP Clinvar	179334857	1523.77	A	G	PASS	1/1	53	None	None	None	0.95807	0.95810					None None	None None None None	TBC1D9B\|0.055011451\|61.19%
	View	013 final	5	rs4700702 dbSNP Clinvar	179278466	1002.77	A	G	PASS	0/1	57	None	None	None	0.48103	0.48100					None None	None None None None	C5orf45\|0.001770546\|91.6%
	View	013 final	5	rs201362497 dbSNP Clinvar	796352	793.77	A	G	PASS	0/1	260	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs2434637 dbSNP Clinvar	796664	51.77	A	G	MG_SNP_Filter	0/1	5	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs59514869 dbSNP Clinvar	801031	372.77	A	G	PASS	0/1	41	None	None	None	0.02256	0.02256					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs3867415 dbSNP Clinvar	801362	382.77	A	G	PASS	0/1	60	None	None	None	0.42812	0.42810					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs6879268 dbSNP Clinvar	814733	1446.77	A	C	PASS	0/1	74	None	None	None	0.30651	0.30650					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs12656150 dbSNP Clinvar	822123	1184.77	A	T	PASS	0/1	33	None	None	None	0.34185	0.34190					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs2277058 dbSNP Clinvar	823820	1076.77	A	G	PASS	0/1	58	None	None	None	0.34964	0.34960					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs2277059 dbSNP Clinvar	823890	2236.77	A	T	PASS	0/1	136	None	None	None	0.35004	0.35000					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs6601068 dbSNP Clinvar	179136138	2944.77	A	G	PASS	1/1	65	None	None	None	0.94629	0.94630					None None	None None None None	CANX\|0.738595899\|7.41%
	View	013 final	5	rs111707776 dbSNP Clinvar	824025	1864.77	A	G	PASS	0/1	109	None	None	None	0.35064	0.35060					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs1807037 dbSNP Clinvar	825160	3687.77	A	C	PASS	0/1	195	None	None	None	0.44469	0.44470					None None	None None None None	ZDHHC11\|0.000483764\|98.54%
C5orf60
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	013 final	5	rs766379571 dbSNP Clinvar	179072006	1004.77	A	G	PASS	0/1	208	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	C5orf60\|0.001143747\|94.74%
	View	013 final	5	rs4645306 dbSNP Clinvar	179071947	14241.77	A	G	PASS	1/1	418	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	C5orf60\|0.001143747\|94.74%
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	013 final	5	rs1814341 dbSNP Clinvar	825245	167.77	A	T	MG_SNP_Filter	0/1	530	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%
ZDHHC11
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	013 final	5	rs1808545 dbSNP Clinvar	825297	398.77	A	G	MG_SNP_Filter	0/1	603	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ZDHHC11\|0.000483764\|98.54%
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	013 final	5	rs1136267 dbSNP Clinvar	179050188	1751.77	A	C	PASS	0/1	132	None	None	None	0.50220	0.50220	0.33903				None None	None None None None	HNRNPH1\|0.744820672\|7.22%
ZDHHC11
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	013 final	5	rs3822811 dbSNP Clinvar	840342	2701.77	A	G	PASS	0/1	435	None	None	None	0.27256	0.27260		1.00	0.00		None None	None None None None	ZDHHC11\|0.000483764\|98.54%
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	013 final	5	rs549174273 dbSNP Clinvar	843658	449.77	A	G	PASS	0/1	82	None	None	None							None None	None None None None	ZDHHC11\|0.000483764\|98.54%
	View	013 final	5	rs28526620 dbSNP Clinvar	179021717	147.77	A	C	PASS	0/1	8	None	None	None	0.06190	0.06190					None None	None None None None	RUFY1\|0.095927869\|51.95%
	View	013 final	5	rs11748267 dbSNP Clinvar	178951351	1034.77	A	C	MG_SNP_Filter	0/1	88	None	None	None	0.47224	0.47220					None None	None None None None	None
BRD9
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	013 final	5	rs145107515 dbSNP Clinvar	878551	167.77	A	G	MG_SNP_Filter	0/1	159	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.03	0.74		None None	None None None None	BRD9\|0.030893639\|69.01%
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	013 final	5	rs28420183 dbSNP Clinvar	178949781	618.77	A	G	PASS	0/1	37	None	None	None							None None	None None None None	None
	View	013 final	5	rs28568855 dbSNP Clinvar	178949613	7938.77	A	G	PASS	1/1	178	None	None	None	0.21526	0.21530					None None	None None None None	None
	View	013 final	5	rs920980 dbSNP Clinvar	896983	402.77	A	G	PASS	0/1	26	None	None	None	0.40835	0.40830					None None	None None None None	TRIP13\|0.201586856\|36.58%
	View	013 final	5	rs2303638 dbSNP Clinvar	178567054	2924.77	A	G	PASS	1/1	101	None	None	None	0.23702	0.23700	0.19230				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	013 final	5	rs10060716 dbSNP Clinvar	1009425	686.77	A	G	PASS	1/1	23	None	None	None	0.92272	0.92270					None None	None None None None	NKD2\|0.006399511\|84.18%
	View	013 final	5	rs3776814 dbSNP Clinvar	178562644	247.8	A	G	PASS	1/1	7	None	None	None	0.43970	0.43970					None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	013 final	5	rs2251105 dbSNP Clinvar	178557142	3716.77	A	G	PASS	1/1	119	None	None	None	0.46266	0.46270	0.46224				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	013 final	5	rs10462579 dbSNP Clinvar	1033425	642.77	A	G	PASS	0/1	55	None	None	None	0.08866	0.08866					None None	None None None None	NKD2\|0.006399511\|84.18%
	View	013 final	5	rs4975576 dbSNP Clinvar	1034246	259.77	A	T	PASS	0/1	18	None	None	None	0.38778	0.38780					None None	None None None None	NKD2\|0.006399511\|84.18%
	View	013 final	5	rs12657514 dbSNP Clinvar	1035482	6337.77	A	G	PASS	1/1	201	None	None	None	0.93051	0.93050	0.06933				None None	None None None None	NKD2\|0.006399511\|84.18%
	View	013 final	5	rs11449973 dbSNP Clinvar	178419396	6128.77	A	AC	PASS	1/1	194	None	None	None	0.99780	0.99780					None None	None None None None	GRM6\|0.079450762\|55.3%
NKD2
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	013 final	5	rs3889678 dbSNP Clinvar	1038526	1384.77	A	G	PASS	1/1	48	None	None	None	0.90096	0.90100	0.08706				None None	None None None None	NKD2\|0.006399511\|84.18%
GRM6
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	013 final	5	rs4701014 dbSNP Clinvar	178415982	4170.77	A	G	PASS	1/1	134	SYNONYMOUS_CODING	LOW	SILENT	0.98602	0.98600	0.01784				None None	None None None None	GRM6\|0.079450762\|55.3%
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	013 final	5	rs10464074 dbSNP Clinvar	178414532	641.77	A	G	PASS	0/1	65	None	None	None	0.21805	0.21810					None None	None None None None	GRM6\|0.079450762\|55.3%
	View	013 final	5	rs2241602 dbSNP Clinvar	1053341	1037.77	A	G	PASS	0/1	71	None	None	None	0.54772	0.54770					None None	None None None None	SLC12A7\|0.028273575\|70.3%
	View	013 final	5	rs4362981 dbSNP Clinvar	1065290	4743.77	A	G	PASS	1/1	104	None	None	None	0.93750	0.93750					None None	None None None None	SLC12A7\|0.028273575\|70.3%
	View	013 final	5	rs56078134 dbSNP Clinvar	1065683	2655.77	A	C	PASS	1/1	60	None	None	None	0.54094	0.54090					None None	None None None None	SLC12A7\|0.028273575\|70.3%
ZNF454
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	013 final	5	rs12719860 dbSNP Clinvar	178391902	1375.77	A	C	PASS	0/1	113	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.66014	0.66010	0.33208	0.78	0.00		None None	None None None None	ZNF454\|0.02003254\|74.17%
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	013 final	5	rs10079413 dbSNP Clinvar	159665534	769.77	A	G	PASS	0/1	49	None	None	None	0.97244	0.97240					None None	None None None None	FABP6\|0.022183773\|73.09%
	View	013 final	5	rs12523242 dbSNP Clinvar	1074560	1445.77	A	C	PASS	0/1	95	None	None	None							None None	None None None None	SLC12A7\|0.028273575\|70.3%
	View	013 final	5	rs56193034 dbSNP Clinvar	1076521	669.77	A	AT...	PASS	0/1	30	None	None	None	0.50879	0.50880					None None	None None None None	SLC12A7\|0.028273575\|70.3%
	View	013 final	5	rs4975564 dbSNP Clinvar	1078898	1152.77	A	G	PASS	0/1	78	None	None	None	0.76977	0.76980	0.22190				None None	None None None None	SLC12A7\|0.028273575\|70.3%
	View	013 final	5	rs6554663 dbSNP Clinvar	1214264	1659.77	A	G	PASS	0/1	132	None	None	None	0.74381	0.74380					None None	None None None None	SLC6A19\|0.158967386\|41.72%
SLC6A19
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	013 final	5	rs4975629 dbSNP Clinvar	1216775	14404.77	A	G	PASS	1/1	457	SYNONYMOUS_CODING	LOW	SILENT	0.84006	0.84010	0.07274				None None	None None None None	SLC6A19\|0.158967386\|41.72%
EBF1
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	013 final	5	rs1368298 dbSNP Clinvar	158204425	2349.77	A	G	PASS	1/1	73	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.59345	0.59350	0.43703				None None	None None None None	EBF1\|0.999818623\|0.23%
SLC6A18
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	013 final	5	rs7724858 dbSNP Clinvar	1225703	4341.77	A	G	PASS	1/1	149	SYNONYMOUS_CODING	LOW	SILENT	0.82288	0.82290	0.06989				None None	None None None None	SLC6A18\|0.029366379\|69.67%
C5orf52
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	013 final	5	rs6884959 dbSNP Clinvar	157102185	987.77	A	G	PASS	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.51797	0.51800	0.47372	1.00	0.00		None None	None None None None	C5orf52\|0.002749186\|89.15%
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	013 final	5	rs4975622 dbSNP Clinvar	1232666	1157.77	A	C	PASS	1/1	37	None	None	None	0.66434	0.66430					None None	None None None None	SLC6A18\|0.029366379\|69.67%
	View	013 final	5	rs6556092 dbSNP Clinvar	157002552	1773.77	A	G	PASS	1/1	59	None	None	None	0.98682	0.98680					None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	013 final	5	rs6554684 dbSNP Clinvar	1240848	3403.77	A	C	PASS	1/1	100	None	None	None	0.69609	0.69610					None None	None None None None	SLC6A18\|0.029366379\|69.67%
	View	013 final	5	rs2042247 dbSNP Clinvar	156946049	1520.77	A	G	PASS	1/1	48	None	None	None	0.54653	0.54650					None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	013 final	5	rs7721679 dbSNP Clinvar	1243009	3813.77	A	G	PASS	1/1	108	None	None	None	0.94109	0.94110	0.09959				None None	None None None None	SLC6A18\|0.029366379\|69.67%
	View	013 final	5	rs12522418 dbSNP Clinvar	156926777	275.78	A	C	PASS	1/1	8	None	None	None	0.42013	0.42010					None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	013 final	5	rs11466782 dbSNP Clinvar	156921955	1284.77	A	G	PASS	1/1	40	None	None	None	0.12440	0.12440					None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	013 final	5	rs35243220 dbSNP Clinvar	1268464	599.77	A	G	PASS	0/1	34	None	None	None	0.06130	0.06130					None None	None None None None	TERT\|0.441954309\|18.57%
	View	013 final	5	rs6899038 dbSNP Clinvar	1268847	425.77	A	C	PASS	0/1	38	None	None	None	0.06150	0.06150					None None	None None None None	TERT\|0.441954309\|18.57%
	View	013 final	5	rs9313606 dbSNP Clinvar	156899173	374.77	A	C	PASS	0/1	16	None	None	None	0.50200	0.50200					None None	None None None None	ADAM19\|0.121857186\|47.16%,NIPAL4\|0.073204954\|56.73%
NIPAL4
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	013 final	5	rs6860507 dbSNP Clinvar	156898690	622.77	A	G	PASS	0/1	47	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.50459	0.50460	0.44935	0.81	0.00		None None	None None None None	ADAM19\|0.121857186\|47.16%,NIPAL4\|0.073204954\|56.73%
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	013 final	5	rs1105282 dbSNP Clinvar	156887133	987.77	A	G	PASS	0/1	101	None	None	None	0.44249	0.44250	0.31729				None None	None None None None	ADAM19\|0.121857186\|47.16%,NIPAL4\|0.073204954\|56.73%
	View	013 final	5	rs3816319 dbSNP Clinvar	156786432	432.77	A	T	PASS	0/1	21	None	None	None	0.48582	0.48580					None None	None None None None	CYFIP2\|0.509393402\|15.41%
	View	013 final	5	rs466502 dbSNP Clinvar	1325767	373.77	A	G	PASS	0/1	30	None	None	None							None None	None None None None	CLPTM1L\|0.070898112\|57.26%
	View	013 final	5	rs10454287 dbSNP Clinvar	6611757	703.77	A	T	PASS	0/1	72	None	None	None	0.54074	0.54070					None None	None None None None	NSUN2\|0.037362108\|66.66%
	View	013 final	5	rs3734027 dbSNP Clinvar	156766037	1891.77	A	G	PASS	0/1	142	None	None	None			0.47892				None None	None None None None	CYFIP2\|0.509393402\|15.41%
	View	013 final	5	rs2288446 dbSNP Clinvar	6620459	465.77	A	G	PASS	0/1	26	None	None	None	0.67552	0.67550	0.29825				None None	None None None None	NSUN2\|0.037362108\|66.66%
	View	013 final	5	rs9313545 dbSNP Clinvar	156762245	916.77	A	G	PASS	0/1	57	None	None	None	0.46645	0.46650					None None	None None None None	CYFIP2\|0.509393402\|15.41%
	View	013 final	5	rs10077387 dbSNP Clinvar	156762071	479.77	A	G	PASS	0/1	33	None	None	None	0.46625	0.46630					None None	None None None None	CYFIP2\|0.509393402\|15.41%
	View	013 final	5	rs74404604 dbSNP Clinvar	6623250	283.77	A	G	PASS	0/1	21	None	None	None	0.02097	0.02097					None None	None None None None	NSUN2\|0.037362108\|66.66%
SRD5A1
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	013 final	5	rs248805 dbSNP Clinvar	6645016	1556.77	A	G	PASS	0/1	153	None	None	None	0.56310	0.56310			0.00		None None	None None None None	SRD5A1\|0.004377681\|86.5%
	View	013 final	5	rs3822430 dbSNP Clinvar	6651970	353.77	A	G	PASS	0/1	25	SYNONYMOUS_CODING	LOW	SILENT	0.28974	0.28970	0.35830				None None	None None None None	SRD5A1\|0.004377681\|86.5%
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	013 final	5	rs77042939 dbSNP Clinvar	156730035	314.77	A	G	PASS	0/1	21	None	None	None	0.06569	0.06569					None None	None None None None	CYFIP2\|0.509393402\|15.41%
	View	013 final	5	rs2279657 dbSNP Clinvar	6737571	713.77	A	G	PASS	0/1	60	None	None	None	0.55072	0.55070					None None	None None None None	PAPD7\|0.136751863\|44.9%
	View	013 final	5	rs274682 dbSNP Clinvar	6748518	734.77	A	G	PASS	0/1	76	None	None	None	0.56370	0.56370					None None	None None None None	PAPD7\|0.136751863\|44.9%
	View	013 final	5	rs1036200 dbSNP Clinvar	156531865	727.77	A	G	PASS	1/1	20	None	None	None	0.88319	0.88320					None None	None None None None	HAVCR2\|0.004215478\|86.71%
	View	013 final	5	rs11134213 dbSNP Clinvar	7303661	4064.77	A	G	PASS	1/1	135	None	None	None	0.53075	0.53080					None None	None None None None	None
	View	013 final	5	rs11955700 dbSNP Clinvar	7306615	1143.77	A	G	PASS	1/1	36	None	None	None	0.53375	0.53370					None None	None None None None	None
	View	013 final	5	rs2270924 dbSNP Clinvar	156482101	185.9	A	T	PASS	1/1	5	None	None	None	0.62640	0.62640					None None	None None None None	HAVCR1\|0.00064813\|97.55%
HAVCR1
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	013 final	5	rs1553316 dbSNP Clinvar	156479509	18070.77	A	G	PASS	1/1	620	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.91254	0.91250	0.14600	0.23	0.00		None None	None None None None	HAVCR1\|0.00064813\|97.55%
	View	013 final	5	rs1553317 dbSNP Clinvar	156479424	20490.77	A	C	PASS	1/1	449	SYNONYMOUS_CODING	LOW	SILENT	0.91274	0.91270	0.14508				None None	None None None None	HAVCR1\|0.00064813\|97.55%
TIMD4
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	013 final	5	rs6873053 dbSNP Clinvar	156376703	2495.77	A	G	PASS	1/1	85	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.97644	0.97640	0.05621	0.73	0.00		None None	None None None None	TIMD4\|0.001467813\|92.93%
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	013 final	5	rs1046012 dbSNP Clinvar	7859523	1626.77	A	G	PASS	1/1	53	None	None	None	0.18970	0.18970	0.30146				None None	None None None None	MTRR\|0.020823988\|73.75%,FASTKD3\|0.00213571\|90.65%
	View	013 final	5	rs17184211 dbSNP Clinvar	7866106	1462.77	A	T	PASS	0/1	137	None	None	None	0.06789	0.06789	0.15078				None None	None None None None	MTRR\|0.020823988\|73.75%,FASTKD3\|0.00213571\|90.65%
MTRR
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	013 final	5	rs1801394 dbSNP Clinvar	7870973	1987.77	A	G	PASS	0/1	175	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.36422	0.36420	0.45241	0.00	0.99		None None	None None None None	MTRR\|0.020823988\|73.75%
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	013 final	5	rs34487083,rs572721325 dbSNP Clinvar	7885782	433.77	A	AT	PASS	0/1	51	None	None	None		0.51640					None None	None None None None	MTRR\|0.020823988\|73.75%
	View	013 final	5	rs4434364 dbSNP Clinvar	155771773	692.77	A	G	PASS	0/1	40	None	None	None	0.84525	0.84520					None None	None None None None	SGCD\|0.849577661\|4.64%

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+ Genes 465

+ Genes associated with diseases 104

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

MSH3

GFPT2

ZDHHC11B

C5orf60

ZDHHC11

ZDHHC11

BRD9

NKD2

GRM6

ZNF454

SLC6A19

EBF1

SLC6A18

C5orf52

NIPAL4

SRD5A1

HAVCR1

TIMD4

MTRR

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