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+ Genes 275

Genes:
ABCA1, ABCA2, ABL1, ACTL7A, ADAMTS13, ADAMTSL1, ADAMTSL2, AK1, AK8, AKNA, ALDH1B1, AMBP, ANAPC2, ANGPTL2, ANKRD18A, ANKRD18B, APBA1, ARID3C, ARRDC1, ASB6, ASPN, ASS1, BSPRY, C5, C8G, C9orf114, C9orf117, C9orf129, C9orf139, C9orf152, C9orf156, C9orf24, C9orf43, C9orf57, C9orf66, C9orf72, CA9, CAMSAP1, CCDC171, CCDC180, CCDC183, CDK5RAP2, CEP78, CERCAM, CIZ1, CLTA, CNTNAP3, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, CRAT, CRB2, DAB2IP, DAPK1, DBH, DCAF12, DDX31, DENND1A, DFNB31, DMRT2, DMRT3, DNM1, DOCK8, DPH7, ECM2, EHMT1, ENG, ENTPD2, ENTPD8, EPB41L4B, ERCC6L2, ERMP1, EXD3, FAM102A, FAM120AOS, FAM166A, FAM189A2, FAM205A, FAM214B, FAM221B, FAM69B, FAM73B, FBP1, FBXO10, FCN1, FCN2, FIBCD1, FKBP15, FOCAD, FOXD4, FOXE1, FREM1, FRMD3, FRMPD1, FSD1L, FUBP3, FUT7, GABBR2, GBGT1, GCNT1, GDA, GLDC, GLE1, GOLGA1, GOLGA2, GPR144, GRIN1, GRIN3A, GSN, HAUS6, HEMGN, IFNB1, IFT74, IKBKAP, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA0020, KIAA0368, KIAA1432, KIF12, KIF27, LAMC3, LCN10, LCN15, LCN6, LCN9, LHX2, LMX1B, LRRC26, LRRC8A, LURAP1L, MAMDC4, MAPKAP1, MEGF9, MPDZ, MSANTD3, MTAP, MURC, MUSK, NACC2, NANS, NCS1, NDOR1, NDUFA8, NEK6, NFX1, NOTCH1, NR4A3, NR5A1, NSMF, NTNG2, NUP188, NUP214, OBP2A, OBP2B, OGN, OR13C2, OR13C3, OR13C5, OR13C9, OR13D1, OR1B1, OR1J2, OR1K1, OR1L6, OR1L8, OR1N1, OR1N2, OR2S2, OSTF1, PAPPA, PCSK5, PGM5, PHPT1, PHYHD1, PKN3, PMPCA, PNPLA7, POLR1E, POMT1, PPAPDC2, PPP1R26, PPP2R4, PPP6C, PRKACG, PRPF4, PRRC2B, PRSS3, PRUNE2, PSMB7, PTGES2, PTGS1, PTPLAD2, PTPN3, PTPRD, QRFP, QSOX2, RABGAP1, RALGDS, RC3H2, RECK, RFK, RGS3, RLN1, RNF183, RNF20, RNF224, ROR2, RORB, SARDH, SCAI, SEC16A, SEMA4D, SETX, SH2D3C, SH3GLB2, SIGMAR1, SLC1A1, SLC2A6, SLC31A2, SLC44A1, SLC46A2, SMARCA2, SNAPC4, SPTAN1, STXBP1, SURF1, SUSD3, SVEP1, SWI5, TAF1L, TBC1D13, TBC1D2, TEK, TESK1, TMC1, TMEM2, TMEM215, TMEM245, TNC, TOMM5, TOPORS, TOR1B, TOR4A, TRAF1, TRIM14, TRPM6, TSTD2, TTC16, TTF1, TTLL11, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UGCG, USP20, VAV2, VLDLR, VPS13A, WDR31, WNK2, ZBTB43, ZBTB5, ZDHHC12, ZER1, ZNF462, ZNF618,

+ Genes associated with diseases 66

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AK1, ASPN, ASS1, C5, C9orf72, CDK5RAP2, CEP78, COL27A1, COL5A1, CRAT, CRB2, DBH, DNM1, DOCK8, EHMT1, ENG, ERCC6L2, FBP1, FOXE1, FREM1, GABBR2, GLDC, GLE1, GRIN1, GSN, IFT74, IKBKAP, JAK2, KANK1, KCNV2, LAMC3, LMX1B, LRRC8A, MPDZ, MTAP, MUSK, NANS, NOTCH1, NR5A1, NSMF, NUP214, PMPCA, POMT1, PRKACG, PRPF4, ROR2, RORB, SARDH, SETX, SIGMAR1, SLC1A1, SMARCA2, SPTAN1, STXBP1, SURF1, TEK, TMC1, TNC, TOPORS, TRPM6, VLDLR, VPS13A,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ABL1 Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ASS1 Citrullinemia, 215700 (3)
C5 C5 deficiency, 609536 (3)
[Eculizumab, poor response to], 615749 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEP78 Cone-rod dystrophy and hearing loss, 617236 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
GABBR2 {Nicotine dependence, protection against}, 188890 (3)
{Nicotine dependence, susceptibility to}, 188890 (3)
Epileptic encephalopathy, early infantile, 59, 617904 (3)
Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLE1 Congenital arthrogryposis with anterior horn cell disease, 611890 (3)
Lethal congenital contracture syndrome 1, 253310 (3)
GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
GSN Amyloidosis, Finnish type, 105120 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MUSK Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
NANS Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NR5A1 Adrenocortical insufficiency, 612964 (3)
Premature ovarian failure 7, 612964 (3)
46, XX sex reversal 4, 617480 (3)
46XY sex reversal 3, 612965 (3)
Spermatogenic failure 8, 613957 (3)
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)
NUP214 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PRKACG ?Bleeding disorder, platelet-type, 19, 616176 (3)
PRPF4 Retinitis pigmentosa 70, 615922 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RORB {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (3)
SARDH [Sarcosinemia], 268900 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SIGMAR1 ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)
?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
STXBP1 Epileptic encephalopathy, early infantile, 4, 612164 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TMC1 Deafness, autosomal dominant 36, 606705 (3)
Deafness, autosomal recessive 7, 600974 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TOPORS Retinitis pigmentosa 31, 609923 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
VPS13A Choreoacanthocytosis, 200150 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AK1, ASS1, C5, CDK5RAP2, CIZ1, COL27A1, COL5A1, CRB2, DBH, DNM1, DOCK8, EHMT1, ENG, ERCC6L2, FBP1, FOXE1, FREM1, GLDC, GLE1, GRIN1, GSN, IKBKAP, JAK2, KANK1, KCNV2, LAMC3, LMX1B, LRRC8A, MPDZ, MTAP, MUSK, NOTCH1, NR5A1, NSMF, PMPCA, POMT1, PRKACG, PRPF4, ROR2, SETX, SIGMAR1, SLC1A1, SMARCA2, SPTAN1, STXBP1, SURF1, TEK, TMC1, TNC, TOPORS, TRPM6, VLDLR, VPS13A,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ASS1 Citrullinemia
C5 Eculizumab, poor response to
Complement component 5 deficiency
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
CIZ1 Primary cervical dystonia, adult-onset
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
DBH Dopamine beta-hydroxylase deficiency
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
EHMT1 Kleefstra syndrome
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
ERCC6L2 Bone marrow failure syndrome 2
FBP1 Fructose-1,6-bisphosphatase deficiency
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
GLDC Glycine encephalopathy
GLE1 Arthrogryposis, lethal, with anterior horn cell disease
Lethal congenital contracture syndrome 1
GRIN1 Mental retardation, autosomal dominant 8
GSN Amyloidosis, Finnish type
IKBKAP Dysautonomia, familial
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNV2 Retinal cone dystrophy 3B
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
NR5A1 Adrenocortical insufficiency
46, XY sex reversal, 3
Premature ovarian failure 7
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PRKACG Bleeding disorder, platelet-type, 19
PRPF4 Retinitis pigmentosa 70
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SIGMAR1 Amyotrophic lateral sclerosis 16, juvenile
Frontotemporal lobar degeneration-motor neuron disease
Spinal muscular atrophy, distal, autosomal recessive, 2
SLC1A1 Dicarboxylic aminoaciduria
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
STXBP1 Epileptic encephalopathy, early infantile 4
SURF1 Charcot-Marie-Tooth disease type 4K
Leigh syndrome
TEK Venous malformations, multiple cutaneous and mucosal
TMC1 Deafness, autosomal recessive 7
TNC Deafness, autosomal dominant 56
TOPORS Retitinis pigmentosa 31
TRPM6 Hypomagnesemia 1, intestinal
VLDLR Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
VPS13A Choreoacanthocytosis

Genes at HGMD

Summary

Number of Variants: 1238
Number of Genes: 275

Export to: CSV

OR13C9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs993658
dbSNP Clinvar 		107380215 174.0 T A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.35004 0.35000 0.23189 0.28 0.04 None None None None None None OR13C9|0.029943997|69.44%

LCN10
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9886752
dbSNP Clinvar 		139634495 194.54 G A PASS 0/1 95 STOP_GAINED HIGH None 0.19928 0.19930 0.16256 None None None None None None LCN10|0.001307936|93.85%

DENND1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9785285
dbSNP Clinvar 		126520068 441.86 T C PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.33107 0.33110 0.36229 None None None None None None DENND1A|0.938841547|2.52%

NACC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9753
dbSNP Clinvar 		138903635 649.46 G A PASS 0/1 328 SYNONYMOUS_CODING LOW None 0.14836 0.14840 0.09203 None None None None None None NACC2|0.093227186|52.55%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs970388
dbSNP Clinvar 		101061639 73.84 C G PASS 1/1 8 None None None 0.23463 0.23460 0.19145 None None None None None None GABBR2|0.519790848|15.02%
View manuela_niro 9 rs9697206
dbSNP Clinvar 		140138787 106.94 A C PASS 0/1 113 None None None 0.11462 0.11460 0.06069 None None None None None None FAM166A|0.005657938|85.03%
View manuela_niro 9 rs9697151
dbSNP Clinvar 		140323906 575.22 G C PASS 0/1 78 None None None 0.35683 0.35680 None None None None None None NOXA1|0.003358505|87.99%
View manuela_niro 9 rs9695232
dbSNP Clinvar 		140289696 563.91 A C PASS 0/1 143 None None None 0.60443 0.60440 None None None None None None EXD3|0.002541663|89.59%

ECM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs968040
dbSNP Clinvar 		95279985 265.76 C A PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.33467 0.33470 0.41627 None None None None None None CENPP|0.015429847|76.86%,ECM2|0.030691019|69.11%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9650705
dbSNP Clinvar 		34178974 644.59 G A PASS 1/1 74 None None None 0.07049 0.07049 0.13579 None None None None None None None

CCDC183
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs945386
dbSNP Clinvar 		139693596 497.34 T C PASS 0/1 307 NON_SYNONYMOUS_CODING MODERATE None 0.27336 0.27340 0.24426 0.54 0.00 None None None None None None CCDC183|0.008607559|82.03%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs942286
dbSNP Clinvar 		116765062 293.8 G T PASS 0/1 101 None None None 0.30312 0.30310 None None None None None None ZNF618|0.429430728|19.16%

GRIN3A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs942142
dbSNP Clinvar 		104432873 648.81 T G PASS 0/1 277 SYNONYMOUS_CODING LOW None 0.26737 0.26740 0.33362 None None None None None None GRIN3A|0.458861927|17.75%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9411254
dbSNP Clinvar 		139411880 128.88 G A PASS 0/1 106 None None None 0.52556 0.52560 0.36199 None None None None None None NOTCH1|0.999930909|0.16%
View manuela_niro 9 rs9411208
dbSNP Clinvar 		139412197 61.4 G A PASS 1/1 7 None None None 0.69629 0.69630 0.44557 None None None None None None NOTCH1|0.999930909|0.16%
View manuela_niro 9 rs9410980
dbSNP Clinvar 		90537739 45.08 C T PASS 0/1 32 None None None 0.01957 0.01957 None None None None None None None
View manuela_niro 9 rs9409546
dbSNP Clinvar 		97209066 533.96 T C PASS 0/1 203 None None None 0.32508 0.32510 0.28295 None None None None None None HIATL1|0.074763262|56.34%

CNTRL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9408926
dbSNP Clinvar 		123914874 89.95 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.02656 0.02656 0.04260 None None None None None None CNTRL|0.185268471|38.32%

FOXD4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9406416
dbSNP Clinvar 		118032 260.54 G A PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.18351 0.18350 None None None None None None None

ADAMTSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs934472
dbSNP Clinvar 		18775810 853.2 C A PASS 0/1 382 NON_SYNONYMOUS_CODING MODERATE None 0.43570 0.43570 0.44970 0.36 0.00 None None None None None None ADAMTSL1|0.674544897|9.24%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9314722
dbSNP Clinvar 		86278773 154.99 T C PASS 0/1 96 None None None 0.17792 0.17790 0.22536 None None None None None None UBQLN1|0.543197392|14.09%

ECM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9299405
dbSNP Clinvar 		95284873 180.0 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.41603 None None None None None None CENPP|0.015429847|76.86%,ECM2|0.030691019|69.11%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs918166
dbSNP Clinvar 		132377728 510.17 C T PASS 0/1 311 None None None 0.55651 0.55650 0.48416 None None None None None None NTMT1|0.139033566|44.54%,C9orf50|0.000870647|96.23%
View manuela_niro 9 rs916619
dbSNP Clinvar 		136596397 89.67 G A PASS 0/1 21 None None None 0.26897 0.26900 0.30163 None None None None None None SARDH|0.055038461|61.17%
View manuela_niro 9 rs913770
dbSNP Clinvar 		132084621 2031.8 G A PASS 1/1 215 None None None 0.18770 0.18770 0.14781 None None None None None None None

KDM4C
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs913588
dbSNP Clinvar 		7174673 103.96 G A PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.31829 0.31830 0.44787 1.00 0.21 1.77 None None None None None None KDM4C|0.19493233|37.27%

KANK1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs912175
dbSNP Clinvar 		712137 205.9 G C PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.18331 0.18330 0.20637 None None None None None None KANK1|0.107252286|49.74%
View manuela_niro 9 rs912174
dbSNP Clinvar 		712156 202.68 T G PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.20447 0.20450 0.23397 1.00 0.00 0.77 None None None None None None KANK1|0.107252286|49.74%

GSN
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs9102
dbSNP Clinvar 		124094800 358.35 T C PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.12440 0.12440 0.05413 None None None None None None GSN|0.728577212|7.7%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs898869
dbSNP Clinvar 		100139182 216.02 C T PASS 0/1 129 None None None 0.27476 0.27480 0.18553 None None None None None None CCDC180|0.009048134|81.61%
View manuela_niro 9 rs894616
dbSNP Clinvar 		127651341 739.32 C T PASS 0/1 276 None None None 0.34325 0.34330 None None None None None None GOLGA1|0.246989485|31.83%

ADAMTSL2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs886063644
dbSNP Clinvar 		136433569 223.06 C T PASS 0/1 103 SYNONYMOUS_CODING LOW None None None None None None None ADAMTSL2|0.0506365|62.46%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs880182
dbSNP Clinvar 		135462633 259.25 G A PASS 0/1 100 None None None 0.16494 0.16490 None None None None None None BARHL1|0.344501185|24.55%
View manuela_niro 9 rs879466
dbSNP Clinvar 		139649666 167.14 C T PASS 0/1 90 None None None 0.00759 0.00759 0.01646 None None None None None None LCN8|0.003456411|87.85%

TBC1D2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs879369
dbSNP Clinvar 		100995721 139.39 A G PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.41234 0.41230 0.45902 0.75 0.00 None None None None None None TBC1D2|0.068773285|57.78%
View manuela_niro 9 rs879368
dbSNP Clinvar 		100995758 131.14 G T PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.21066 0.21070 0.23420 0.13 0.01 None None None None None None TBC1D2|0.068773285|57.78%

ASPN
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar 		95237024 244.0 CTCA C,... PASS 1/2 48 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs877365
dbSNP Clinvar 		35713181 937.73 C T PASS 0/1 489 None None None 0.40435 0.40440 0.37006 None None None None None None TLN1|0.598640538|11.8%

LAMC3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs869457
dbSNP Clinvar 		133924451 560.33 C T PASS 0/1 390 NON_SYNONYMOUS_CODING MODERATE None 0.25859 0.25860 0.27311 0.26 0.04 None None None None None None LAMC3|0.028908459|69.93%

PRSS3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs855551
dbSNP Clinvar 		33750845 287.67 G C PASS 0/1 114 None None None 0.19229 0.19230 1.00 0.00 None None None None None None PRSS3|0.009331176|81.43%

ZER1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs8507
dbSNP Clinvar 		131515547 1509.85 G T PASS 1/1 162 SYNONYMOUS_CODING LOW None 0.35403 0.35400 0.45345 None None None None None None ZER1|0.319877068|26.16%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs838838
dbSNP Clinvar 		111746607 144.15 T C PASS 0/1 80 None None None 0.11641 0.11640 0.13709 None None None None None None CTNNAL1|0.35730783|23.64%
View manuela_niro 9 rs821315
dbSNP Clinvar 		140470497 275.65 C T PASS 0/1 94 None None None 0.02835 0.02835 0.03091 None None None None None None DPH7|0.002405679|89.88%

DPH7
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs821314
dbSNP Clinvar 		140468828 194.06 C T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.02835 0.02835 0.03099 0.26 0.00 None None None None None None DPH7|0.002405679|89.88%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs8192689
dbSNP Clinvar 		97380043 286.66 G A PASS 0/1 110 None None None 0.36002 0.36000 0.31839 None None None None None None FBP1|0.199003275|36.83%
View manuela_niro 9 rs8190541
dbSNP Clinvar 		99013616 1240.42 C T PASS 1/1 131 None None None 0.21685 0.21690 None None None None None None HSD17B3|0.021209783|73.59%
View manuela_niro 9 rs818714
dbSNP Clinvar 		116183301 210.0 G A PASS 0/1 119 None None None 0.30911 0.30910 None None None None None None C9orf43|0.002847419|88.94%
View manuela_niro 9 rs818056
dbSNP Clinvar 		133967240 1466.82 T C PASS 0/1 252 None None None 0.38958 0.38960 None None None None None None LAMC3|0.028908459|69.93%
View manuela_niro 9 rs8176751
dbSNP Clinvar 		136131022 381.51 C T PASS 0/1 193 None None None 0.16454 0.16450 0.10174 None None None None None None None
View manuela_niro 9 rs8176749
dbSNP Clinvar 		136131188 643.48 C T PASS 0/1 254 None None None 0.15256 0.15260 0.10022 None None None None None None None
View manuela_niro 9 rs8176747
dbSNP Clinvar 		136131315 111.67 C G PASS 0/1 63 None None None 0.15276 0.15280 0.09943 None None None None None None None
View manuela_niro 9 rs8176746
dbSNP Clinvar 		136131322 183.68 G T PASS 0/1 63 None None None 0.15276 0.15280 0.10114 None None None None None None None
View manuela_niro 9 rs8176743
dbSNP Clinvar 		136131415 300.74 C T PASS 0/1 133 None None None 0.15296 0.15300 0.10024 None None None None None None None
View manuela_niro 9 rs8176741
dbSNP Clinvar 		136131461 308.75 G A PASS 0/1 131 None None None 0.15296 0.15300 0.10249 None None None None None None None
View manuela_niro 9 rs8176722
dbSNP Clinvar 		136132754 318.96 C A PASS 0/1 137 None None None 0.15395 0.15400 0.10593 None None None None None None None
View manuela_niro 9 rs8176720
dbSNP Clinvar 		136132873 554.43 T C PASS 0/1 256 None None None 0.45328 0.45330 0.37145 None None None None None None None
View manuela_niro 9 rs8176693
dbSNP Clinvar 		136137657 412.97 C T PASS 0/1 181 None None None 0.13598 0.13600 None None None None None None None
View manuela_niro 9 rs80319285
dbSNP Clinvar 		125390799 620.96 C G PASS 0/1 253 None None None 0.06669 None None None None None None None
View manuela_niro 9 rs80169356
dbSNP Clinvar 		92008619 294.77 T C PASS 0/1 147 None None None 0.00379 0.00379 0.01007 None None None None None None SEMA4D|0.019426315|74.47%
View manuela_niro 9 rs80057939
dbSNP Clinvar 		116822510 119.08 G A PASS 0/1 44 None None None 0.07648 0.07648 0.06566 None None None None None None AMBP|0.0676964|57.96%
View manuela_niro 9 rs79697339
dbSNP Clinvar 		139118606 508.44 C T PASS 0/1 249 None None None 0.03834 0.03834 0.03076 None None None None None None QSOX2|0.009593559|81.17%
View manuela_niro 9 rs79292436
dbSNP Clinvar 		116835163 402.5 C A PASS 0/1 231 None None None 0.03634 0.03634 0.02191 None None None None None None AMBP|0.0676964|57.96%
View manuela_niro 9 rs79089087
dbSNP Clinvar 		131076050 714.06 G A PASS 0/1 309 None None None 0.03195 0.03195 0.03537 None None None None None None TRUB2|0.045539339|64.04%
View manuela_niro 9 rs78986616
dbSNP Clinvar 		131186328 272.71 C T PASS 0/1 145 None None None 0.27376 0.27380 None None None None None None CERCAM|0.14529477|43.67%
View manuela_niro 9 rs78828148
dbSNP Clinvar 		139326450 276.15 G A PASS 0/1 117 None None None 0.01358 0.01358 0.01585 None None None None None None INPP5E|0.014755828|77.32%
View manuela_niro 9 rs7874404
dbSNP Clinvar 		136439803 50.37 C T PASS 0/1 57 None None None 0.23622 0.23620 None None None None None None ADAMTSL2|0.0506365|62.46%

ENTPD2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7873815
dbSNP Clinvar 		139943429 49.9 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.43670 0.43670 0.33816 None None None None None None ENTPD2|0.020384427|73.98%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7873522
dbSNP Clinvar 		136131905 109.38 T C PASS 0/1 118 None None None 0.45367 0.45370 None None None None None None None
View manuela_niro 9 rs7873416
dbSNP Clinvar 		136131846 118.16 T C PASS 0/1 122 None None None 0.45387 0.45390 None None None None None None None
View manuela_niro 9 rs7871742
dbSNP Clinvar 		111868698 127.26 A G PASS 0/1 48 None None None 0.11062 0.11060 None None None None None None TMEM245|0.264913539|30.3%
View manuela_niro 9 rs7870265
dbSNP Clinvar 		116269520 700.17 T G PASS 0/1 328 None None None 0.09724 0.09724 0.15125 None None None None None None RGS3|0.174619779|39.71%
View manuela_niro 9 rs7866888
dbSNP Clinvar 		33524775 363.17 C A PASS 0/1 156 None None None 0.44409 0.44410 None None None None None None ANKRD18B|0.001295646|93.93%
View manuela_niro 9 rs7866432
dbSNP Clinvar 		115959199 192.15 G C PASS 0/1 116 None None None 0.20627 0.20630 0.23744 None None None None None None FKBP15|0.128309228|46.15%
View manuela_niro 9 rs7866253
dbSNP Clinvar 		111795561 213.34 C T PASS 0/1 166 None None None 0.12360 0.12360 0.15898 None None None None None None TMEM245|0.264913539|30.3%

UBQLN1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7866234
dbSNP Clinvar 		86278817 251.33 C A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.38478 0.38480 0.22497 None None None None None None UBQLN1|0.543197392|14.09%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7865596
dbSNP Clinvar 		26988783 76.75 G A PASS 0/1 32 None None None 0.00639 0.06390 None None None None None None IFT74|0.368880838|22.78%
View manuela_niro 9 rs7865453
dbSNP Clinvar 		137772604 413.63 A C PASS 0/1 249 None None None 0.16314 0.16310 None None None None None None None

VAV2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7865299
dbSNP Clinvar 		136662928 146.78 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.26078 0.26080 0.28987 None None None None None None VAV2|0.159643763|41.61%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7865125
dbSNP Clinvar 		115932299 189.05 T A PASS 0/1 101 None None None 0.26198 0.26200 None None None None None None FKBP15|0.128309228|46.15%
View manuela_niro 9 rs7864080
dbSNP Clinvar 		2073514 652.03 A T PASS 1/1 68 None None None 0.45427 0.45430 0.45214 None None None None None None SMARCA2|0.973609555|1.61%
View manuela_niro 9 rs7863062
dbSNP Clinvar 		137806554 489.82 C T PASS 0/1 154 None None None 0.05072 0.05072 0.05160 None None None None None None FCN1|0.005920154|84.67%
View manuela_niro 9 rs7862031
dbSNP Clinvar 		139636222 41.31 T C PASS 0/1 21 None None None 0.24820 0.24820 None None None None None None LCN10|0.001307936|93.85%
View manuela_niro 9 rs7861925
dbSNP Clinvar 		101785598 497.63 G T PASS 0/1 238 None None None 0.20308 0.20310 0.15624 None None None None None None COL15A1|0.059345569|60.08%
View manuela_niro 9 rs7859253
dbSNP Clinvar 		108483741 121.46 G A PASS 0/1 66 None None None 0.52217 0.52220 None None None None None None TMEM38B|0.15362874|42.46%

CCDC183
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7859194
dbSNP Clinvar 		139694569 58.72 A C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.27476 0.27480 0.20898 0.72 0.00 None None None None None None CCDC183|0.008607559|82.03%

PRRC2B
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs78591540
dbSNP Clinvar 		134351770 458.64 G A PASS 0/1 268 SYNONYMOUS_CODING LOW None 0.09724 0.09724 0.13231 None None None None None None PRRC2B|0.148927133|43.15%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7857793
dbSNP Clinvar 		119065358 146.73 T C PASS 0/1 72 None None None 0.11701 0.11700 None None None None None None PAPPA|0.754125684|7%
View manuela_niro 9 rs7856971
dbSNP Clinvar 		119977051 716.86 G T PASS 0/1 363 None None None 0.32149 0.32150 0.31785 None None None None None None ASTN2|0.952118309|2.19%
View manuela_niro 9 rs7856737
dbSNP Clinvar 		107361710 244.08 G A PASS 0/1 176 None None None 0.43650 0.43650 0.32600 None None None None None None None
View manuela_niro 9 rs7856643
dbSNP Clinvar 		107366884 166.23 C G PASS 0/1 50 None None None 0.37081 0.37080 None None None None None None None
View manuela_niro 9 rs7856626
dbSNP Clinvar 		111775502 48.8 C G PASS 0/1 13 None None None 0.19828 0.19830 None None None None None None CTNNAL1|0.35730783|23.64%
View manuela_niro 9 rs7856096
dbSNP Clinvar 		130566539 411.28 A G PASS 0/1 146 None None None 0.07688 0.07688 0.07266 None None None None None None FPGS|0.103779441|50.46%
View manuela_niro 9 rs7855255
dbSNP Clinvar 		136131895 108.13 C T PASS 0/1 120 None None None 0.16374 0.16370 None None None None None None None
View manuela_niro 9 rs7854435
dbSNP Clinvar 		1056101 282.2 T G PASS 0/1 132 None None None 0.34205 0.34210 None None None None None None DMRT2|0.08644262|53.86%

COL15A1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7854112
dbSNP Clinvar 		101804329 309.2 T C PASS 0/1 121 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.15036 0.15040 0.11871 None None None None None None COL15A1|0.059345569|60.08%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7853989
dbSNP Clinvar 		136131592 185.53 G C PASS 0/1 81 None None None 0.16414 0.16410 0.11218 None None None None None None None
View manuela_niro 9 rs7853626
dbSNP Clinvar 		136726626 975.7 C G PASS 0/1 404 None None None 0.18530 0.18530 0.19229 None None None None None None VAV2|0.159643763|41.61%
View manuela_niro 9 rs7852550
dbSNP Clinvar 		111795565 202.63 T C PASS 0/1 168 None None None 0.11202 0.11200 0.14194 None None None None None None TMEM245|0.264913539|30.3%

CNTNAP3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7852039
dbSNP Clinvar 		39103743 321.73 C T PASS 0/1 105 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18650 0.18650 0.17315 0.16 0.05 3.20 None None None None None None CNTNAP3|0.003914923|87.16%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 9 rs7851787
dbSNP Clinvar 		101785633 660.44 T C PASS 0/1 283 None None None 0.21406 0.21410 0.15800 None None None None None None COL15A1|0.059345569|60.08%