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Genes:
ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRB2, AGGF1, AGXT2, AMACR, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, APBB3, APC, AQPEP, ARHGAP26, ARHGEF28, ARHGEF37, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, B4GALT7, BDP1, BHMT2, BRD8, BRD9, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf20, C5orf34, C5orf42, C5orf46, C5orf58, C5orf60, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAPSL, CARD6, CATSPER3, CCDC69, CCNB1, CCNH, CCT5, CD180, CDC20B, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CEP72, CHSY3, CMBL, CNOT6, COL23A1, COL4A3BP, COMMD10, CPLX2, CSF1R, CTXN3, CWC27, CYFIP2, DAB2, DBN1, DCP2, DMGDH, DMXL1, DNAH5, DNAJC18, DOCK2, DOK3, DRD1, DROSHA, DUSP1, EBF1, EFCAB9, EGFLAM, ELL2, ENC1, EPB41L4A, ERAP2, ERBB2IP, ERCC8, F12, F2R, F2RL1, FAM134B, FAM13B, FAM151B, FAM159B, FAM173B, FAM193B, FAM196B, FAM81B, FASTKD3, FAT2, FBN2, FBXL21, FCHO2, FCHSD1, FER, FGFR4, FLT4, FNDC9, FNIP1, FOXI1, FSTL4, FTMT, FYB, GABRA6, GABRG2, GABRP, GALNT10, GCNT4, GDF9, GEMIN5, GFPT2, GHR, GLRX, GM2A, GNB2L1, GNPDA1, GPBP1, GPR98, GPX3, GPX8, GRAMD3, GRK6, GRM6, GRXCR2, GZMA, HAPLN1, HAVCR1, HAVCR2, HCN1, HDAC3, HEXB, HK3, HMGCS1, HMGXB3, HMMR, HSD17B4, HSPB3, IL13, IL31RA, IL6ST, IL7R, IPO11, IQGAP2, IRF1, IRX1, IRX4, ISOC1, ITGA1, ITK, JMY, KCNN2, KCTD16, KDM3B, KIAA0825, KLHL3, LARS, LCP2, LECT2, LHFPL2, LNPEP, LPCAT1, LRRC14B, LYSMD3, MAML1, MAN2A1, MAP3K1, MARVELD2, MAST4, MAT2B, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEGF10, MGAT1, MIER3, MROH2B, MRPL22, MSH3, MSX2, MTRR, MYO10, MYOT, MYOZ3, NDST1, NDUFS4, NEURL1B, NIPAL4, NIPBL, NKD2, NLN, NMUR2, NNT, NOP16, NPR3, NREP, NSD1, NSUN2, NUDT12, NUP155, OR2V2, OR2Y1, OSMR, OTP, PAM, PARP8, PCDH12, PCDHA1, PCDHA13, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHAC1, PCDHAC2, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB2, PCDHB3, PCDHB4, PCDHB6, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA7, PCDHGB3, PCDHGB4, PCDHGB7, PCDHGC3, PCSK1, PDCD6, PDE4D, PDE8B, PDGFRB, PDLIM4, PDZD2, PELO, PHAX, PITX1, PJA2, PKD2L2, PLAC8L1, PLEKHG4B, PLK2, POC5, POLK, PPARGC1B, PPWD1, PRDM6, PRDM9, PRELID1, PROP1, PRR16, PTCD2, RAD17, RAI14, RANBP3L, RAPGEF6, RASGEF1C, RASGRF2, REEP5, RELL2, RGS7BP, RHOBTB3, RICTOR, RIOK2, RNF180, RPS23, S100Z, SAR1B, SEMA5A, SEMA6A, SEPP1, SEPT8, SETD9, SFXN1, SH3PXD2B, SH3RF2, SH3TC2, SLC12A2, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A46, SLC25A48, SLC26A2, SLC30A5, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A7, SLCO4C1, SLIT3, SMAD5, SNX18, SOWAHA, SOX30, SPATA24, SPDL1, SPEF2, SPINK5, SPINK6, SPZ1, SRA1, SREK1IP1, SSBP2, STK10, SV2C, TAS2R1, TBC1D9B, TCF7, TCOF1, TERT, TGFBI, THBS4, THG1L, TIGD6, TIMD4, TMEM171, TMEM173, TMEM232, TNFAIP8, TNIP1, TNPO1, TPPP, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRIP13, TSSK1B, UGT3A1, UTP15, VCAN, WDR36, WDR41, WDR55, WWC1, XRCC4, YTHDC2, ZCCHC9, ZDHHC11, ZFP2, ZFR, ZFYVE16, ZNF131, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF608, ZSWIM6,

+ Genes associated with diseases 101

Genes at Omim

ADAMTS2, ADRB2, AGXT2, AMACR, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, BDP1, C6, C7, C9, CAMK2A, CCT5, COL4A3BP, CSF1R, CWC27, CYFIP2, DMGDH, DNAH5, DOCK2, ERCC8, F12, FAM134B, FAT2, FBN2, FGFR4, FLT4, FOXI1, FYB, GABRG2, GDF9, GHR, GM2A, GRM6, GRXCR2, HCN1, HEXB, HMMR, HSD17B4, HSPB3, IL13, IL31RA, IL7R, IRF1, ITK, KLHL3, LARS, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFS4, NIPAL4, NIPBL, NNT, NPR3, NSD1, NSUN2, NUP155, OSMR, PCDH12, PCSK1, PDE4D, PDE8B, PDGFRB, PITX1, PPARGC1B, PRDM6, PROP1, RPS23, SAR1B, SH3PXD2B, SH3TC2, SLC22A4, SLC22A5, SLC25A46, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SPINK5, TCOF1, TERT, TGFBI, TMEM173, TRIM36, TRIO, TRIP13, VCAN, WDR36, WWC1, XRCC4, ZSWIM6,

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)
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)
B4GALT7	Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
BDP1	?Deafness, autosomal recessive 112, 618257 (3)
C6	C6 deficiency, 612446 (3) Combined C6/C7 deficiency (3)
C7	C7 deficiency, 610102 (3)
C9	C9 deficiency, 613825 (3) {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CAMK2A	Mental retardation, autosomal dominant 53, 617798 (3) ?Mental retardation, autosomal recessive 63, 618095 (3)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
COL4A3BP	Mental retardation, autosomal dominant 34, 616351 (3)
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CWC27	Retinitis pigmentosa with or without skeletal anomalies, 250410 (3)
CYFIP2	Epileptic encephalopathy, early infantile, 65, 618008 (3)
DMGDH	Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2	Immunodeficiency 40, 616433 (3)
ERCC8	Cockayne syndrome, type A, 216400 (3) UV-sensitive syndrome 2, 614621 (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)
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)
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)
HCN1	Epileptic encephalopathy, early infantile, 24, 615871 (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)
HSPB3	?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IL13	{Allergic rhinitis, susceptibility to}, 607154 (3) {Asthma, susceptibility to}, 600807 (3)
IL31RA	?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
IRF1	Gastric cancer, somatic, 613659 (3) Myelodysplastic syndrome, preleukemic (3) Myelogenous leukemia, acute (3) Nonsmall cell lung cancer, somatic, 211980 (3)
ITK	Lymphoproliferative syndrome 1, 613011 (3)
KLHL3	Pseudohypoaldosteronism, type IID, 614495 (3)
LARS	?Infantile liver failure syndrome 1, 615438 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MARVELD2	Deafness, autosomal recessive 49, 610153 (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)
NDUFS4	Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
NIPAL4	Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NIPBL	Cornelia de Lange syndrome 1, 122470 (3)
NNT	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (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)
OSMR	Amyloidosis, primary localized cutaneous, 1, 105250 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1	{Obesity, susceptibility to, BMIQ12}, 612362 (3) Obesity with impaired prohormone processing, 600955 (3)
PDE4D	Acrodysostosis 2, with or without hormone resistance, 614613 (3)
PDE8B	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3) Striatal degeneration, autosomal dominant, 609161 (3)
PDGFRB	Basal ganglia calcification, idiopathic, 4, 615007 (3) Kosaki overgrowth syndrome, 616592 (3) Myeloproliferative disorder with eosinophilia, 131440 (4) Myofibromatosis, infantile, 1, 228550 (3) Premature aging syndrome, Penttinen type, 601812 (3)
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3) Liebenberg syndrome, 186550 (4)
PPARGC1B	{Obesity, variation in}, 601665 (3)
PRDM6	Patent ductus arteriosus 3, 617039 (3)
PROP1	Pituitary hormone deficiency, combined, 2, 262600 (3)
RPS23	Brachycephaly, trichomegaly, and developmental delay, 617412 (3)
SAR1B	Chylomicron retention disease, 246700 (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)
SLC22A4	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5	Carnitine deficiency, systemic primary, 212140 (3)
SLC25A46	Neuropathy, hereditary motor and sensory, type VIB, 616505 (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)
SPINK5	Netherton syndrome, 256500 (3)
TCOF1	Treacher Collins syndrome 1, 154500 (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)
TRIP13	Mosaic variegated aneuploidy syndrome 3, 617598 (3)
VCAN	Wagner syndrome 1, 143200 (3)
WDR36	Glaucoma 1, open angle, G, 609887 (3)
WWC1	[Memory, enhanced, QTL], 615602 (3)
XRCC4	Short stature, microcephaly, and endocrine dysfunction, 616541 (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, AP3B1, APC, ARSB, B4GALT7, C6, C7, C9, CCT5, COL4A3BP, CSF1R, DMGDH, DNAH5, DOCK2, ERCC8, F12, FAM134B, FBN2, FLT4, FOXI1, GABRG2, GHR, GM2A, GRM6, GRXCR2, HCN1, HEXB, HSD17B4, HSPB3, IL31RA, IL7R, ITK, KLHL3, LARS, MAP3K1, MARVELD2, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFS4, NIPAL4, NIPBL, NNT, NSD1, NUP155, OSMR, PCSK1, PDE4D, PDE8B, PDGFRB, PITX1, PROP1, SAR1B, SH3PXD2B, SH3TC2, SLC22A5, SLC25A46, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SPINK5, TCOF1, TERT, TGFBI, TMEM173, VCAN, XRCC4, 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
AP3B1	Hermansky-Pudlak syndrome 2
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
B4GALT7	Ehlers-Danlos syndrome with short stature and limb anomalies
C6	Complement component 6 deficiency
C7	Complement component 7 deficiency
C9	Complement component 9 deficiency
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia
COL4A3BP	Mental retardation, autosomal dominant 34
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids
DMGDH	Dimethylglycine dehydrogenase deficiency
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2	Immunodeficiency 40
ERCC8	UV-sensitive syndrome 2 Cockayne syndrome type A
F12	Angioedema, hereditary, type III
FAM134B	Neuropathy, hereditary sensory and autonomic, type IIB
FBN2	Congenital contractural arachnodactyly (Beals syndrome)
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
HCN1	Epileptic encephalopathy, early infantile, 24
HEXB	Sandhoff disease
HSD17B4	Perrault syndrome
HSPB3	Neuronopathy, distal hereditary motor, type IIC
IL31RA	Amyloidois, primary localized cutaneous, 2
IL7R	Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
ITK	Lymphoproliferative syndrome 1
KLHL3	Pseudohypoaldosteronism, type IID
LARS	Infantile liver failure syndrome 1
MAP3K1	46,XY sex reversal 6
MARVELD2	Deafness, autosomal recessive 49
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
NDUFS4	Mitochondrial complex I deficiency Leigh syndrome
NIPAL4	Ichthyosis, congenital, autosomal recessive
NIPBL	Cornelia de Lange syndrome 1
NNT	Glucocorticoid deficiency 4
NSD1	Sotos syndrome Weaver syndrome Beckwith-Wiedemann syndrome
NUP155	Atrial fibrillation 15
OSMR	Amyloidosis, primary localized cutaneous, 1
PCSK1	Proprotein convertase 1/3 deficiency
PDE4D	Acrodysostosis 2, with or without hormone resistance
PDE8B	Pigmented nodular adrenocortical disease, primary, 3
PDGFRB	Basal ganglia calcification, idiopathic, 4 Kosaki overgrowth syndrome Myofibromatosis, infantile 1 Premature aging syndrome, Penttinen type
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome
PROP1	Pituitary hormone deficiency, combined, 2
SAR1B	Chylomicron retention disease (Anderson disease)
SH3PXD2B	Frank-ter Haar syndrome
SH3TC2	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild
SLC22A5	Carnitine deficiency, systemic primary
SLC25A46	Neuropathy, hereditary motor and sensory, type VIB
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
SPINK5	Netherton syndrome
TCOF1	Treacher Collins syndrome 1
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
XRCC4	Short stature, microcephaly, and endocrine dysfunction
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 1498
Number of Genes: 387

Export to: CSV

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ADAM19
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	sp16_961	5	rs1422795 dbSNP Clinvar	156936364	508.509	T	C	PASS	1/1	54	NON_SYNONYMOUS_CODING	MODERATE	None	0.41454	0.41450	0.42873	0.23	0.03		None None	None None None None	ADAM19\|0.121857186\|47.16%
ADAMTS12
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	sp16_961	5	rs117518215 dbSNP Clinvar	33881252	263.199	G	A	PASS	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None	0.03255	0.03255	0.00738	0.13	0.92		None None	None None None None	ADAMTS12\|0.089192289\|53.4%
ADAMTS16
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	sp16_961	5	rs371295965 dbSNP Clinvar	5318294	101.723	C	T	PASS	0/1	52	SYNONYMOUS_CODING	LOW	None	0.00439	0.00439	0.00008				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	sp16_961	5	rs11742370 dbSNP Clinvar	5240002	221.787	C	A	PASS	0/1	75	SYNONYMOUS_CODING	LOW	None	0.11342	0.11340	0.14171				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	sp16_961	5	rs1863968 dbSNP Clinvar	5146395	273.687	A	G	PASS	0/1	104	NON_SYNONYMOUS_CODING	MODERATE	None	0.48283	0.48280	0.44804	0.06	0.00		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	sp16_961	5	rs2086310 dbSNP Clinvar	5146335	240.89	C	G	PASS	0/1	94	NON_SYNONYMOUS_CODING	MODERATE	None	0.69549	0.69550	0.24077	1.00	0.00		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	sp16_961	5	rs16875054 dbSNP Clinvar	5209210	81.9849	G	A	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.05591	0.05591	0.02743	0.12	0.05		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	sp16_961	5	rs1019747 dbSNP Clinvar	5146377	194.514	T	C	PASS	0/1	103	NON_SYNONYMOUS_CODING	MODERATE	None	0.49441	0.49440	0.44242	0.05	0.01		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	sp16_961	5	rs6555335 dbSNP Clinvar	5200281	186.857	C	T	PASS	0/1	70	SYNONYMOUS_CODING	LOW	None	0.72524	0.72520	0.29491				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	sp16_961	5	rs11742341 dbSNP Clinvar	5239921	244.288	C	T	PASS	0/1	68	SYNONYMOUS_CODING	LOW	None	0.11462	0.11460	0.14480				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
ADAMTS19
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	sp16_961	5	rs6595908 dbSNP Clinvar	128863471	316.55	A	G	PASS	1/1	34	NON_SYNONYMOUS_CODING	MODERATE	None	0.99920	0.99920	0.00392	1.00	0.00		None None	None None None None	ADAMTS19\|0.08763198\|53.7%
ADAMTS2
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	sp16_961	5	rs66565583 dbSNP Clinvar	178634547	146.387	G	A	PASS	0/1	74	SYNONYMOUS_CODING	LOW	None	0.13578	0.13580	0.17361				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	sp16_961	5	rs1972715 dbSNP Clinvar	178562967	81.985	G	A	PASS	0/1	37	SYNONYMOUS_CODING	LOW	None	0.19649	0.19650	0.23997				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	sp16_961	5	rs423552 dbSNP Clinvar	178634619	593.889	C	T	PASS	1/1	63	SYNONYMOUS_CODING	LOW	None	0.92452	0.92450	0.08473				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	sp16_961	5	rs2303644 dbSNP Clinvar	178555045	121.399	G	A	PASS	0/1	79	SYNONYMOUS_CODING	LOW	None	0.12999	0.13000	0.17246				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	sp16_961	5	rs2271212 dbSNP Clinvar	178770981	241.282	A	G	PASS	0/1	141	SYNONYMOUS_CODING	LOW	None			0.30895				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
ADCY2
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	sp16_961	5	rs62342477 dbSNP Clinvar	7743787	68.1249	C	T	PASS	0/1	58	SYNONYMOUS_CODING	LOW	None	0.32368	0.32370	0.49854				None None	None None None None	ADCY2\|0.904669113\|3.35%
	View	sp16_961	5	rs13166360 dbSNP Clinvar	7520881	139.892	G	T	PASS	0/1	60	NON_SYNONYMOUS_CODING	MODERATE	None	0.09165	0.09165	0.19445	0.05	0.06	2.98	0.04 0.57246 D	None None None None	ADCY2\|0.904669113\|3.35%
ADRB2
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	sp16_961	5	rs1042714 dbSNP Clinvar	148206473	447.308	G	C	PASS	1/1	47	NON_SYNONYMOUS_CODING	MODERATE	None	0.79573	0.79570	0.34000	0.47	0.01		None None	None None None None	ADRB2\|0.766324239\|6.71%
	View	sp16_961	5	rs1042713 dbSNP Clinvar	148206440	447.291	G	A	PASS	1/1	49	NON_SYNONYMOUS_CODING	MODERATE	None	0.47564	0.47560	0.41489	0.17	0.14		None None	None None None None	ADRB2\|0.766324239\|6.71%
AGGF1
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	sp16_961	5	rs13155212 dbSNP Clinvar	76343999	92.2947	T	C	PASS	0/1	41	SYNONYMOUS_CODING	LOW	None	0.22205	0.22200	0.24708				None None	None None None None	AGGF1\|0.089872136\|53.25%
	View	sp16_961	5	rs6865460 dbSNP Clinvar	76349900	193.382	T	C	PASS	0/1	57	SYNONYMOUS_CODING	LOW	None	0.02816	0.02815	0.02368				None None	None None None None	AGGF1\|0.089872136\|53.25%
AGXT2
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	sp16_961	5	rs37369 dbSNP Clinvar	35037115	96.451	C	T	PASS	0/1	39	NON_SYNONYMOUS_CODING	MODERATE	None	0.39357	0.39360	0.23897	1.00	0.00		None None	None None None None	AGXT2\|0.105323014\|50.19%
	View	sp16_961	5	rs466067 dbSNP Clinvar	35010138	173.333	A	G	PASS	0/1	53	SYNONYMOUS_CODING	LOW	None	0.89457	0.89460	0.04198				None None	None None None None	AGXT2\|0.105323014\|50.19%
	View	sp16_961	5	rs180749 dbSNP Clinvar	35033605	41.6454	G	A	PASS	0/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.87500	0.87500	0.05790	0.23	0.01		None None	None None None None	AGXT2\|0.105323014\|50.19%
	View	sp16_961	5	rs37370 dbSNP Clinvar	35039486	892.895	C	T	PASS	1/1	93	NON_SYNONYMOUS_CODING	MODERATE	None	0.81050	0.81050	0.07220	0.36	0.00		None None	None None None None	AGXT2\|0.105323014\|50.19%
AMACR
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	sp16_961	5	rs2278008 dbSNP Clinvar	33989518	1149.32	C	T	PASS	1/1	118	NON_SYNONYMOUS_CODING	MODERATE	None	0.69609	0.69610	0.24089	0.95	0.00		None None	None None None None	AMACR\|0.038358163\|66.34%
	View	sp16_961	5	rs34677 dbSNP Clinvar	33998768	191.219	C	A	PASS	0/1	49	NON_SYNONYMOUS_CODING	MODERATE	None	0.11442	0.11440	0.11995	0.03	0.14	6.41	None None	None None None None	AMACR\|0.038358163\|66.34%
	View	sp16_961	5	rs2287939 dbSNP Clinvar	33998883	339.21	A	G	PASS	1/1	36	NON_SYNONYMOUS_CODING	MODERATE	None	0.71486	0.71490	0.25135	0.33	0.01		None None	None None None None	AMACR\|0.038358163\|66.34%
ANKRD31
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	sp16_961	5	rs1422698 dbSNP Clinvar	74443132	137.32	C	T	PASS	0/1	52	NON_SYNONYMOUS_CODING	MODERATE	None	0.58506	0.58510	0.48795	1.00	0.00		None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	sp16_961	5	rs2219745 dbSNP Clinvar	74506658	41.4703	C	T	PASS	0/1	9	SYNONYMOUS_CODING	LOW	None	0.25879	0.25880					None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	sp16_961	5	rs961098 dbSNP Clinvar	74400386	270.114	G	C	PASS	0/1	225	NON_SYNONYMOUS_CODING	MODERATE	None	0.21266	0.21270	0.13447	1.00	0.66		None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	sp16_961	5	rs1422699 dbSNP Clinvar	74442410	185.373	G	A	PASS	0/1	88	SYNONYMOUS_CODING	LOW	None	0.58506	0.58510					None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	sp16_961	5	rs6888707 dbSNP Clinvar	74442920	119.699	A	G	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.58526	0.58530	0.48774				None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	sp16_961	5	rs10563854,rs796339850 dbSNP Clinvar	74491715	121.842	TTCA	T	PASS	0/1	158	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.58147	0.58150	0.49535				None None	None None None None	ANKRD31\|0.011398689\|79.69%
ANKRD33B
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	sp16_961	5	rs814576 dbSNP Clinvar	10564846	408.917	C	T	PASS	1/1	44	SYNONYMOUS_CODING	LOW	None	0.96426	0.96430					None None	None None None None	ANKRD33B\|0.01613202\|76.38%
ANKRD34B
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	sp16_961	5	rs32857 dbSNP Clinvar	79855372	164.288	A	G	PASS	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.94249	0.94250	0.11141	1.00	0.00		None None	None None None None	ANKRD34B\|0.037975306\|66.46%
ANKRD55
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	sp16_961	5	rs321775 dbSNP Clinvar	55406952	94.7099	T	C	PASS	0/1	77	SYNONYMOUS_CODING	LOW	None	0.21765	0.21770	0.21728				None None	None None None None	ANKRD55\|0.097647762\|51.59%
	View	sp16_961	5	rs60779428 dbSNP Clinvar	55412471	135.914	C	T	PASS	0/1	80	SYNONYMOUS_CODING	LOW	None	0.08327	0.08327	0.10980				None None	None None None None	ANKRD55\|0.097647762\|51.59%
	View	sp16_961	5	rs321776 dbSNP Clinvar	55407542	173.066	C	T	PASS	0/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.20787	0.20790	0.21075	1.00	0.01		None None	None None None None	ANKRD55\|0.097647762\|51.59%
ANXA2R
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	sp16_961	5	rs1054428 dbSNP Clinvar	43039793	279.386	T	C	PASS	1/1	29	NON_SYNONYMOUS_CODING	MODERATE	None	0.18351	0.18350	0.26695	0.48	0.37		None None	None None None None	ANXA2R\|0.000047349\|100%
ANXA6
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	sp16_961	5	rs1133202 dbSNP Clinvar	150489390	508.511	A	G	PASS	1/1	54	SYNONYMOUS_CODING	LOW	None	0.75819	0.75820	0.21680				None None	None None None None	ANXA6\|0.284174792\|28.78%
	View	sp16_961	5	rs2228458 dbSNP Clinvar	150518988	1001.58	G	A	PASS	1/1	111	SYNONYMOUS_CODING	LOW	None	0.27756	0.27760	0.17837				None None	None None None None	ANXA6\|0.284174792\|28.78%
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	sp16_961	5	rs6453373 dbSNP Clinvar	77425028	189.917	A	T	PASS	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	None			0.06720	1.00	0.00		None None	None None None None	AP3B1\|0.638758531\|10.5%
APBB3
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	sp16_961	5	rs250431 dbSNP Clinvar	139940233	1659.2	G	A	PASS	1/1	176	SYNONYMOUS_CODING	LOW	None	0.63139	0.63140	0.41227				None None	None None None None	APBB3\|0.268238369\|30.01%
	View	sp16_961	5	rs250430 dbSNP Clinvar	139941228	364.092	A	G	PASS	1/1	40	NON_SYNONYMOUS_CODING	MODERATE	None	0.90575	0.90580	0.11018	1.00	0.00		None None	None None None None	APBB3\|0.268238369\|30.01%
APC
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	sp16_961	5	rs2229992 dbSNP Clinvar	112162854	59.5692	T	C	PASS	0/1	45	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.50998	0.51000	0.46217				None None	None None None None	APC\|0.952088564\|2.19%
	View	sp16_961	5	rs866006 dbSNP Clinvar	112176559	219.388	T	G	PASS	0/1	82	SYNONYMOUS_CODING	LOW	None	0.66693	0.66690	0.41201				None None	None None None None	APC\|0.952088564\|2.19%
	View	sp16_961	5	rs459552 dbSNP Clinvar	112176756	98.2976	T	A	PASS	0/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.86542	0.86540	0.17374		0.00		None None	None None None None	APC\|0.952088564\|2.19%
	View	sp16_961	5	rs465899 dbSNP Clinvar	112177171	131.835	G	A	PASS	0/1	65	SYNONYMOUS_CODING	LOW	None	0.66653	0.66650	0.41309				None None	None None None None	APC\|0.952088564\|2.19%
	View	sp16_961	5	rs42427 dbSNP Clinvar	112176325	188.5	G	A	PASS	0/1	80	SYNONYMOUS_CODING	LOW	None	0.66673	0.66670	0.40987				None None	None None None None	APC\|0.952088564\|2.19%
	View	sp16_961	5	rs41115 dbSNP Clinvar	112175770	164.459	G	A	PASS	0/1	78	PROTEIN_PROTEIN_INTERACTION_LOCUS	HIGH	None	0.66554	0.66550	0.41378				None None	None None None None	APC\|0.952088564\|2.19%
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	sp16_961	5	rs1445708 dbSNP Clinvar	115298977	102.105	C	T	PASS	0/1	57	SYNONYMOUS_CODING	LOW	None	0.38918	0.38920	0.34532				None None	None None None None	None
	View	sp16_961	5	rs12520255 dbSNP Clinvar	115298475	183.218	T	C	PASS	0/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.77396	0.77400	0.17663	0.86	0.00		None None	None None None None	None
	View	sp16_961	5	rs10078748 dbSNP Clinvar	115341611	673.07	G	T	PASS	1/1	70	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.77676	0.77680	0.18315				None None	None None None None	None
	View	sp16_961	5	rs10078759 dbSNP Clinvar	115341638	689.984	G	C	PASS	1/1	73	NON_SYNONYMOUS_CODING	MODERATE	None			0.18292	0.02	0.59		None None	None None None None	None
	View	sp16_961	5	rs12522632 dbSNP Clinvar	115298518	372.186	A	G	PASS	0/1	151	SYNONYMOUS_CODING	LOW	None			0.17741				None None	None None None None	None
	View	sp16_961	5	rs10062297 dbSNP Clinvar	115298378	312.971	C	T	PASS	0/1	79	SYNONYMOUS_CODING	LOW	None	0.77496	0.77500	0.16337				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	sp16_961	5	rs258819 dbSNP Clinvar	142593652	1160.95	C	T	PASS	1/1	122	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.99641	0.99640	0.00377				None None	None None None None	ARHGAP26\|0.689373516\|8.81%
	View	sp16_961	5	rs2270068 dbSNP Clinvar	142421415	1250.47	T	G	PASS	1/1	126	SYNONYMOUS_CODING	LOW	None	0.88818	0.88820	0.00169				None None	None None None None	ARHGAP26\|0.689373516\|8.81%
	View	sp16_961	5	rs185200 dbSNP Clinvar	142254679	497.846	A	G	PASS	1/1	53	SYNONYMOUS_CODING	LOW	None	0.67372	0.67370	0.46202				None None	None None None None	ARHGAP26\|0.689373516\|8.81%
ARHGEF28
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	sp16_961	5	rs2973571 dbSNP Clinvar	73142296	184.095	C	T	PASS	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.17213	0.17210	0.23821	0.36	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs2973568 dbSNP Clinvar	73144845	244.852	A	G	PASS	0/1	64	SYNONYMOUS_CODING	LOW	None	0.67632	0.67630	0.32967				None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs1478453 dbSNP Clinvar	73207372	256.102	T	A	PASS	0/1	93	NON_SYNONYMOUS_CODING	MODERATE	None	0.30232	0.30230	0.38488	0.30	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs146562116 dbSNP Clinvar	73190312	391.101	C	T	PASS	0/1	174	SYNONYMOUS_CODING	LOW	None	0.01817	0.01817	0.01238				None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs2973558 dbSNP Clinvar	73163965	198.42	C	A	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	None	0.22264	0.22260	0.27568	0.40	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs2931423 dbSNP Clinvar	73163831	137.312	C	T	PASS	0/1	79	SYNONYMOUS_CODING	LOW	None	0.22264	0.22260	0.27751				None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs7716253 dbSNP Clinvar	73090261	78.6865	T	C	PASS	0/1	39	SYNONYMOUS_CODING	LOW	None	0.61342	0.61340	0.39609				None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs143394331 dbSNP Clinvar	73109488	211.31	G	A	PASS	0/1	74	None	None	None	0.01937	0.01937					None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs6453022 dbSNP Clinvar	73076511	494.375	C	A	PASS	0/1	93	NON_SYNONYMOUS_CODING	MODERATE	None	0.57788	0.57790	0.43045	0.67	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs423333 dbSNP Clinvar	73218954	339.21	C	T	PASS	1/1	36	NON_SYNONYMOUS_CODING	MODERATE	None	0.32248	0.32250		0.66	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	sp16_961	5	rs2973566 dbSNP Clinvar	73148481	239.086	G	A	PASS	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.16394	0.16390	0.23058	0.01	0.95		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
ARHGEF37
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	sp16_961	5	rs1135093 dbSNP Clinvar	149008521	423.685	A	G	PASS	1/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.69369	0.69370	0.28951	0.64	0.00		None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	sp16_961	5	rs9324624 dbSNP Clinvar	149006640	689.984	C	T	PASS	1/1	73	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.37560	0.37560	0.47589	0.00	0.99		None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	sp16_961	5	rs1056993 dbSNP Clinvar	149008403	434.986	A	G	PASS	1/1	46	SYNONYMOUS_CODING	LOW	None	0.67213	0.67210	0.31076				None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	sp16_961	5	rs2400891 dbSNP Clinvar	148989122	476.298	C	T	PASS	1/1	49	SYNONYMOUS_CODING	LOW	None	0.37720	0.37720	0.46349				None None	None None None None	ARHGEF37\|0.046932636\|63.62%
ARL14EPL
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	sp16_961	5	rs6880759 dbSNP Clinvar	115394626	112.835	G	A	PASS	0/1	48	SYNONYMOUS_CODING	LOW	None	0.07208	0.67630					None None	None None None None	ARL14EPL\|0.056195492\|60.86%
ARL15
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	sp16_961	5	rs35941 dbSNP Clinvar	53606295	245.458	T	C	PASS	0/1	97	SYNONYMOUS_CODING	LOW	None	0.82648	0.82650	0.12791				None None	None None None None	ARL15\|0.803940544\|5.72%
ARSB
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	sp16_961	5	rs25413 dbSNP Clinvar	78135201	76.6064	C	T	PASS	0/1	107	SYNONYMOUS_CODING	LOW	None	0.25919	0.25920	0.29179				None None	None None None None	ARSB\|0.08485524\|54.24%
ARSI
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	sp16_961	5	rs6579784 dbSNP Clinvar	149677851	210.664	A	G	PASS	1/1	23	SYNONYMOUS_CODING	LOW	None	0.99880	0.99880	0.00584				None None	None None None None	ARSI\|0.132727876\|45.51%
ATG10
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	sp16_961	5	rs3734114 dbSNP Clinvar	81354389	238.307	T	C	PASS	0/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.19010	0.19010	0.16116	0.29	0.00		None None	None None None None	ATG10\|0.133054505\|45.45%
	View	sp16_961	5	rs1864182 dbSNP Clinvar	81549240	33.9905	C	A	PASS	0/1	25	NON_SYNONYMOUS_CODING	MODERATE	None	0.56190	0.56190	0.44556	0.00	0.89		None None	None None None None	ATG10\|0.133054505\|45.45%
	View	sp16_961	5	rs1864183 dbSNP Clinvar	81549216	40.8423	C	T	PASS	0/1	25	NON_SYNONYMOUS_CODING	MODERATE	None	0.52077	0.52080	0.37744	0.32	0.00		None None	None None None None	ATG10\|0.133054505\|45.45%
ATP10B
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	sp16_961	5	rs958912 dbSNP Clinvar	160097496	568.228	A	G	PASS	1/1	59	NON_SYNONYMOUS_CODING	MODERATE	None	0.86162	0.86160	0.14734	0.39	0.00		None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	sp16_961	5	rs958911 dbSNP Clinvar	160097632	1385.68	G	A	PASS	1/1	145	SYNONYMOUS_CODING	LOW	None	0.87760	0.87760	0.11247				None None	None None None None	ATP10B\|0.07854889\|55.53%
B4GALT7
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	sp16_961	5	rs729459 dbSNP Clinvar	177035964	857.025	T	C	PASS	1/1	89	SYNONYMOUS_CODING	LOW	None	0.60503	0.60500	0.42519				None None	None None None None	B4GALT7\|0.160454345\|41.46%
	View	sp16_961	5	rs11537644 dbSNP Clinvar	177031348	1313.46	T	C	PASS	1/1	137	SYNONYMOUS_CODING	LOW	None	0.66134	0.66130	0.36735				None None	None None None None	B4GALT7\|0.160454345\|41.46%
BDP1
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	sp16_961	5	rs1961760 dbSNP Clinvar	70806649	165.695	T	A	PASS	0/1	110	NON_SYNONYMOUS_CODING	MODERATE	None	0.43990	0.43990	0.45353	1.00	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs715748 dbSNP Clinvar	70806457	221.233	G	A	PASS	0/1	114	NON_SYNONYMOUS_CODING	MODERATE	None	0.43970	0.43970	0.45004	0.25	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs715747 dbSNP Clinvar	70806711	98.9668	C	G	PASS	0/1	57	NON_SYNONYMOUS_CODING	MODERATE	None	0.79074	0.79070	0.22814	0.15	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs6886336 dbSNP Clinvar	70806958	103.524	G	A	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	None	0.82109	0.82110	0.19709	0.46	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs1698063 dbSNP Clinvar	70809169	184.859	A	G	PASS	0/1	84	NON_SYNONYMOUS_CODING	MODERATE	None	0.39956	0.39960	0.42969	0.15	0.02		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs182190 dbSNP Clinvar	70840233	194.811	C	T	PASS	0/1	96	SYNONYMOUS_CODING	LOW	None	0.39896	0.39900	0.42819				None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs3761967 dbSNP Clinvar	70800538	144.851	G	A	PASS	0/1	87	NON_SYNONYMOUS_CODING	MODERATE	None	0.43271	0.43270	0.44776	0.13	0.15		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs199691118 dbSNP Clinvar	70813190	130.883	C	T	PASS	0/1	54	SYNONYMOUS_CODING	LOW	None	0.00459	0.00459					None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs6453014 dbSNP Clinvar	70837295	119.428	A	C	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.82268	0.82270	0.19623	1.00	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs3748043 dbSNP Clinvar	70751818	216.544	T	G	PASS	0/1	142	NON_SYNONYMOUS_CODING	MODERATE	None	0.77816	0.77820	0.23286	1.00	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	sp16_961	5	rs469039 dbSNP Clinvar	70849021	121.4	G	T	PASS	0/1	47	SYNONYMOUS_CODING	LOW	None	0.43271	0.43270	0.44997				None None	None None None None	BDP1\|0.020559057\|73.91%
BHMT2
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	sp16_961	5	rs682985 dbSNP Clinvar	78373431	243.174	C	T	PASS	1/1	26	SYNONYMOUS_CODING	LOW	None	0.48822	0.48820	0.49939				None None	None None None None	DMGDH\|0.169846291\|40.33%,BHMT2\|0.048729707\|63.04%
BRD8
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	sp16_961	5	rs423258 dbSNP Clinvar	137475787	561.579	C	T	PASS	1/1	60	SYNONYMOUS_CODING	LOW	None	0.29673	0.29670	0.28556				None None	None None None None	BRD8\|0.564301197\|13.19%