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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
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 . 139946802 107.03 TGC GT... PASS 2/3 12 None None None None None None None None None ENTPD2|0.020384427|73.98%
View manuela_niro 9 rs147565972
dbSNP Clinvar 		12708958 1144.36 T A,TA PASS 2/2 126 None None None 0.25978 0.25980 0.48002 None None None None None None TYRP1|0.383239911|21.84%
View manuela_niro 9 rs375657745
dbSNP Clinvar 		5988332 1034.24 TC T,TT PASS 1/2 100 None None None 0.00120 0.00120 0.10174 None None None None None None KIAA2026|0.200524934|36.71%
View manuela_niro 9 . 139837700 576.91 AC... AC... PASS 1/2 95 None None None None None None None None None FBXW5|0.044234789|64.42%
View manuela_niro 9 . 432140 156.8 CTTT CA... PASS 1/2 38 None None None 0.00200 None None None None None None DOCK8|0.209041054|35.69%
View manuela_niro 9 rs143654666,rs66758062
dbSNP Clinvar 		17308968 660.95 ATG A,ATA PASS 1/2 71 None None None 0.75679 0.75680 None None None None None None CNTLN|0.534626587|14.4%
View manuela_niro 9 rs142676375,rs368760930
dbSNP Clinvar 		137688780 3301.91 GC... G,... PASS 1/2 800 None None None 0.45747 0.45750 0.35123 None None None None None None COL5A1|0.207487878|35.85%
View manuela_niro 9 . 4719343 60.77 AG AA,GA PASS 1/2 9 None None None None None None None None None AK3|0.168943089|40.46%

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%

POMT1
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 . 134385435 2181.99 CA CG,TG PASS 1/2 236 NON_SYNONYMOUS_CODING MODERATE None 0.60 0.00 None None None None None None POMT1|0.060595085|59.69%
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 . 135526545 118.31 CCTT CCT,C PASS 1/2 81 None None None None None None None None None DDX31|0.04136072|65.35%

DDX31
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 . 135545383 476.6 ACCC AC... PASS 1/2 97 FRAME_SHIFT HIGH None None None None None None None DDX31|0.04136072|65.35%
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 rs10760352
dbSNP Clinvar 		127083725 2897.64 C T PASS 1/1 307 None None None 0.55152 0.55150 0.47601 None None None None None None NEK6|0.322263569|26%
View manuela_niro 9 rs10819287
dbSNP Clinvar 		130166382 2399.29 C G PASS 1/1 253 None None None 0.91334 0.91330 0.04958 None None None None None None SLC2A8|0.0656931|58.44%

OR1N1
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 rs16911867
dbSNP Clinvar 		125289083 639.74 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.39058 0.39060 0.32208 None None None None None None OR1N1|0.001184653|94.52%

COL27A1
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 rs2014134
dbSNP Clinvar 		117002517 3565.94 C T PASS 1/1 376 SYNONYMOUS_CODING LOW None 0.31809 0.31810 0.31616 None None None None None None COL27A1|0.069704494|57.54%
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 rs2418316
dbSNP Clinvar 		117430743 956.43 A T PASS 1/1 100 None None None 0.34685 0.34680 None None None None None None None

KCNV2
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 rs12352254
dbSNP Clinvar 		2729686 2807.92 C G PASS 1/1 293 NON_SYNONYMOUS_CODING MODERATE None 0.14257 0.14260 0.15793 0.09 0.00 -0.34 None None rs12352254 2 not_specified 1 KCNV2|0.138157046|44.67%,KIAA0020|0.190064189|37.8%
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 . 136132907 2270.17 GT GT... PASS 1/1 248 None None None None None None None None None None

QRFP
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 rs3847193
dbSNP Clinvar 		133769169 2271.7 G A PASS 1/1 293 SYNONYMOUS_CODING LOW None 0.35663 0.35660 0.39436 None None None None None None QRFP|0.004116093|86.84%
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 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
View manuela_niro 9 rs2296947
dbSNP Clinvar 		117430524 850.42 G A PASS 1/1 89 None None None 0.36402 0.36400 None None None None None None None

PHYHD1
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 rs751340
dbSNP Clinvar 		131689361 2025.16 G A PASS 1/1 208 SYNONYMOUS_CODING LOW None 0.36981 0.36980 0.39197 None None None None None None PHYHD1|0.045235214|64.15%
View manuela_niro 9 rs2273866
dbSNP Clinvar 		131702891 1904.37 A G PASS 1/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.35144 0.35140 0.36945 0.06 0.00 None None None None None None PHYHD1|0.045235214|64.15%
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 rs1886371
dbSNP Clinvar 		122075274 1048.51 A T PASS 1/1 144 None None None 0.36681 0.36680 None None None None None None BRINP1|0.722842706|7.9%

SETX
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 rs1056899
dbSNP Clinvar 		135139901 664.5 T C PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.53874 0.53870 0.44418 1.00 0.00 None None None None None None SETX|0.030104605|69.35%

TOR1B
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 rs1043178
dbSNP Clinvar 		132569553 805.93 C T PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.16733 0.16730 0.24950 None None None None None None TOR1B|0.047443569|63.48%

OR1L8
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 rs10985702
dbSNP Clinvar 		125330184 471.98 A C PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.48103 0.48100 0.34999 3.09 0.03 0.53204 D None None None None OR1L8|0.006841138|83.63%
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 rs11243704
dbSNP Clinvar 		135153668 2196.65 C T PASS 1/1 233 None None None 0.53395 0.53390 0.44310 None None None None None None SETX|0.030104605|69.35%

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 rs35767802
dbSNP Clinvar 		136419629 882.27 G A PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.00 None None None None None None ADAMTSL2|0.0506365|62.46%
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 rs743537
dbSNP Clinvar 		130634944 2391.22 T C PASS 1/1 256 None None None 0.36442 0.36440 0.41012 None None None None None None AK1|0.26080806|30.67%

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%

OR1L6
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 rs10818740
dbSNP Clinvar 		125512788 124.55 G A PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.87540 0.87540 0.34 0.13 None None None None None None OR1L6|0.017064632|75.81%

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 rs12349966
dbSNP Clinvar 		133928345 447.3 C T PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.47983 0.47980 0.49100 None None None None None None LAMC3|0.028908459|69.93%
View manuela_niro 9 rs7024108
dbSNP Clinvar 		133962930 806.07 C T PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.22205 0.22200 0.30201 0.06 0.65 None None None None None None LAMC3|0.028908459|69.93%
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 rs6597675
dbSNP Clinvar 		133963058 1897.17 C A PASS 1/1 225 None None None 0.00040 0.42770 0.47786 None None None None None None LAMC3|0.028908459|69.93%
View manuela_niro 9 rs56045213
dbSNP Clinvar 		127076271 1710.2 A G PASS 1/1 178 None None None 0.08686 0.08686 0.07866 None None None None None None NEK6|0.322263569|26%

NUP188
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 rs2287363
dbSNP Clinvar 		131767668 1424.52 A C PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.45168 0.45170 0.42534 None None None None None None NUP188|0.250759428|31.46%
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 rs61001416
dbSNP Clinvar 		135375023 1266.19 G A PASS 1/1 138 None None None 0.10583 0.10580 0.15305 None None None None None None C9orf171|0.095048175|52.09%
View manuela_niro 9 rs13286286
dbSNP Clinvar 		135412913 1404.35 G A PASS 1/1 173 None None None 0.26218 0.26220 None None None None None None C9orf171|0.095048175|52.09%
View manuela_niro 9 rs140045613
dbSNP Clinvar 		137690364 1416.97 G A PASS 1/1 153 None None None 0.00739 0.00739 0.00613 None None None None None None COL5A1|0.207487878|35.85%

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 rs2296049
dbSNP Clinvar 		740901 3092.85 C T PASS 1/1 322 SYNONYMOUS_CODING LOW None 0.26597 0.26600 0.27926 None None None None None None KANK1|0.107252286|49.74%

TEK
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 rs3737188
dbSNP Clinvar 		27213580 832.17 T C PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.15375 0.15380 0.17884 6.37 0.32 0.91422 D None None None None TEK|0.672230071|9.33%
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 rs10757661
dbSNP Clinvar 		27455585 2879.76 G A PASS 1/1 286 START_GAINED LOW None 0.62560 0.62560 0.41373 None None None None None None MOB3B|0.452968189|18.04%
View manuela_niro 9 rs10993958
dbSNP Clinvar 		136535677 328.33 G A PASS 1/1 44 None None None 0.02177 0.02177 0.05204 None None None None None None SARDH|0.055038461|61.17%

SARDH
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 rs2502740
dbSNP Clinvar 		136561367 1205.32 G A PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.27587 None None None None None None SARDH|0.055038461|61.17%
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 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 rs2510248
dbSNP Clinvar 		136569974 510.62 G A PASS 1/1 52 None None None 0.39836 0.39840 None None None None None None SARDH|0.055038461|61.17%
View manuela_niro 9 . 136570004 416.9 GT AC PASS 1/1 45 None None None None None None None None None SARDH|0.055038461|61.17%
View manuela_niro 9 rs10757713
dbSNP Clinvar 		2824000 781.48 A G PASS 1/1 87 None None None 0.51937 0.51940 None None None None None None KIAA0020|0.190064189|37.8%

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 rs3763651
dbSNP Clinvar 		7103816 1442.2 C T PASS 1/1 151 SYNONYMOUS_CODING LOW None 0.57209 0.57210 0.49139 None None None None None None KDM4C|0.19493233|37.27%
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 rs10974955
dbSNP Clinvar 		5090641 195.16 G A PASS 1/1 21 None None None 0.25959 0.25960 None None None None None None JAK2|0.99507323|0.83%
View manuela_niro 9 rs2297081
dbSNP Clinvar 		421980 874.81 T A PASS 1/1 92 None None None 0.39457 0.39460 None None None None None None DOCK8|0.209041054|35.69%
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
View manuela_niro 9 rs66574029,rs750641917,rs34181788,rs398069041
dbSNP Clinvar 		136629256 486.58 CTG C PASS 1/1 95 None None None None None None None None None VAV2|0.159643763|41.61%
View manuela_niro 9 rs2797825
dbSNP Clinvar 		136629298 1074.64 A G PASS 1/1 113 None None None 0.31649 0.31650 0.43912 None None None None None None VAV2|0.159643763|41.61%
View manuela_niro 9 rs41313794
dbSNP Clinvar 		34220855 857.63 G A PASS 1/1 95 None None None 0.07109 0.07109 0.13601 None None None None None None UBAP1|0.527135813|14.68%
View manuela_niro 9 . 140249253 1257.6 AG CA PASS 1/1 133 None None None None None None None None None EXD3|0.002541663|89.59%
View manuela_niro 9 rs2510244
dbSNP Clinvar 		136637242 158.92 A G PASS 1/1 17 None None None 0.29273 0.29270 None None None None None None VAV2|0.159643763|41.61%
View manuela_niro 9 rs2811726
dbSNP Clinvar 		139639571 201.64 T C PASS 1/1 22 None None None 0.20168 0.20170 0.29661 None None None None None None LCN6|0.003987265|87.05%

C9orf24
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 rs3808876
dbSNP Clinvar 		34382726 127.01 A G PASS 1/1 16 None None None 0.59964 0.59960 0.46978 0.24 0.02 None None None None None None C9orf24|0.044460803|64.35%
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 rs667183
dbSNP Clinvar 		136641235 950.02 C T PASS 1/1 109 None None None 0.32847 0.32850 0.42064 None None None None None None VAV2|0.159643763|41.61%
View manuela_niro 9 rs28580293
dbSNP Clinvar 		140322404 195.15 C G PASS 1/1 21 None None None 0.39137 0.39140 None None None None None None NOXA1|0.003358505|87.99%
View manuela_niro 9 rs540626
dbSNP Clinvar 		136645079 2384.33 G C PASS 1/1 252 None None None 0.24161 0.24160 0.31616 None None None None None None VAV2|0.159643763|41.61%

LCN15
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 rs2297722
dbSNP Clinvar 		139656670 86.76 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.73303 0.73300 0.25355 0.31 0.00 None None None None None None LCN15|0.004912621|85.89%
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 rs11534415
dbSNP Clinvar 		140325962 2596.88 G A PASS 1/1 270 None None None 0.37101 0.37100 None None None None None None NOXA1|0.003358505|87.99%
View manuela_niro 9 rs35138580
dbSNP Clinvar 		140328077 1274.63 C T PASS 1/1 150 None None None 0.39197 0.39200 0.29429 None None None None None None NOXA1|0.003358505|87.99%

LCN15
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 rs2297723
dbSNP Clinvar 		139656706 73.84 A C PASS 1/1 8 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73303 0.73300 0.25262 1.00 0.00 None None None None None None LCN15|0.004912621|85.89%
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 rs41274849
dbSNP Clinvar 		34402663 1826.06 C T PASS 1/1 191 None None None 0.07228 0.07228 0.13217 None None None None None None FAM219A|0.545902319|13.94%
View manuela_niro 9 rs56024916
dbSNP Clinvar 		138414956 671.13 C T PASS 1/1 80 None None None 0.38079 0.38080 None None None None None None LCN1|0.000331729|99.3%
View manuela_niro 9 rs55713520
dbSNP Clinvar 		138415877 1057.17 T C PASS 1/1 114 None None None 0.05851 0.05851 0.03914 None None None None None None LCN1|0.000331729|99.3%

IFNB1
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 rs1051922
dbSNP Clinvar 		21077716 1855.39 G A PASS 1/1 192 SYNONYMOUS_CODING LOW None 0.32828 0.32830 0.34369 None None None None None None IFNB1|0.038086762|66.41%
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 rs73560977
dbSNP Clinvar 		138417166 488.27 G A PASS 1/1 52 None None None 0.11701 0.11700 None None None None None None LCN1|0.000331729|99.3%
View manuela_niro 9 rs4007684,rs386414535,rs397782838
dbSNP Clinvar 		16738556 926.55 C CT... PASS 1/1 162 None None None 0.87300 0.87300 None None None None None None BNC2|0.997136727|0.66%

ARID3C
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 rs13283357
dbSNP Clinvar 		34627940 2690.42 C T PASS 1/1 287 SYNONYMOUS_CODING LOW None 0.18690 0.18690 0.27163 None None None None None None ARID3C|0.102060317|50.79%

TAF1L
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 rs17219559
dbSNP Clinvar 		32634467 2218.26 T C PASS 1/1 232 NON_SYNONYMOUS_CODING MODERATE None 0.03974 0.03974 0.07312 0.00 0.36 None None None None None None TAF1L|0.007575765|83%

TUSC1
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 rs72631815
dbSNP Clinvar 		25677698 1108.84 A C PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.16633 0.16630 0.19277 0.19 0.00 None None None None None None TUSC1|0.019205665|74.58%
View manuela_niro 9 rs72631814
dbSNP Clinvar 		25678122 1807.43 G C PASS 1/1 192 SYNONYMOUS_CODING LOW None 0.17672 0.17670 0.18560 None None None None None None TUSC1|0.019205665|74.58%
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 rs1986592
dbSNP Clinvar 		2103950 432.69 T C PASS 1/1 52 None None None 0.43810 0.43810 None None None None None None SMARCA2|0.973609555|1.61%
View manuela_niro 9 rs638203
dbSNP Clinvar 		27203134 1458.88 A G PASS 1/1 153 None None None 0.41494 0.41490 0.44710 None None None None None None TEK|0.672230071|9.33%
View manuela_niro 9 rs28694247
dbSNP Clinvar 		137019776 1374.03 G A PASS 1/1 144 None None None 0.15256 0.15260 None None None None None None WDR5|0.18423131|38.43%
View manuela_niro 9 rs7035357
dbSNP Clinvar 		17394465 308.49 G A PASS 1/1 33 None None None 0.78115 0.78120 None None None None None None CNTLN|0.534626587|14.4%
View manuela_niro 9 rs58856080
dbSNP Clinvar 		2115743 2375.95 T C PASS 1/1 251 None None None 0.07248 0.07248 None None None None None None SMARCA2|0.973609555|1.61%

SMARCA2
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 rs6601
dbSNP Clinvar 		2116037 1748.09 G A PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.23542 0.23540 0.26803 None None None None None None SMARCA2|0.973609555|1.61%
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 rs2292920
dbSNP Clinvar 		139905819 305.39 C T PASS 1/1 36 None None None 0.10963 0.10960 0.12625 None None None None None None ABCA2|0.074227496|56.47%

EHMT1
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 rs1129768
dbSNP Clinvar 		140638461 940.75 T C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.46885 0.46880 0.49616 None None None None None None EHMT1|0.048999784|62.96%

FAM214B
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 rs13287211
dbSNP Clinvar 		35107765 3662.84 C A PASS 1/1 404 SYNONYMOUS_CODING LOW None 0.18710 0.18710 0.28542 None None None None None None FAM214B|0.47810235|16.84%
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 rs10964528
dbSNP Clinvar 		2039983 1464.63 A C PASS 1/1 158 None None None 0.41014 0.41010 None None None None None None SMARCA2|0.973609555|1.61%
View manuela_niro 9 rs7034409
dbSNP Clinvar 		2182290 1403.49 G A PASS 1/1 158 None None None 0.19609 0.19610 0.10534 None None None None None None SMARCA2|0.973609555|1.61%

SLC1A1
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 rs2228622
dbSNP Clinvar 		4564432 1254.64 G A PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.32828 0.32830 0.35637 None None None None None None SLC1A1|0.254280296|31.18%,SPATA6L|0.02025056|74.04%

SMARCA2
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 rs2296212
dbSNP Clinvar 		2191309 1325.81 C G PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.22364 0.22360 0.16523 0.00 2.08 None None rs2296212 3 not_specified 0 SMARCA2|0.973609555|1.61%
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 rs4842162
dbSNP Clinvar 		137660194 1614.52 G T PASS 1/1 168 None None None 0.45567 0.45570 0.37889 None None None None None None COL5A1|0.207487878|35.85%
View manuela_niro 9 rs1874109
dbSNP Clinvar 		14770580 3834.02 G A PASS 1/1 440 None None None 0.29892 0.29890 0.29922 None None None None None None FREM1|0.310358547|26.81%
View manuela_niro 9 rs3750434
dbSNP Clinvar 		35739876 1479.33 G A PASS 1/1 154 None None None 0.37520 0.37520 None None None None None None GBA2|0.173811168|39.8%
View manuela_niro 9 rs1570249
dbSNP Clinvar 		35752252 1257.2 G A PASS 1/1 132 None None None 0.38179 0.38180 None None None None None None RGP1|0.260192873|30.72%

UAP1L1
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 manuela_niro 9 rs7037849
dbSNP Clinvar 		139973820 1158.32 C T PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.48922 0.48920 0.41458 0.12 0.32 None None None None None None UAP1L1|0.018733938|74.84%

OR2S2
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 manuela_niro 9 rs2233568
dbSNP Clinvar 		35957355 1296.7 G A PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.34385 0.34380 0.37414 None None None None None None OR2S2|0.010856043|80.2%
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 manuela_niro 9 rs10870183
dbSNP Clinvar 		140008899 87.87 G A PASS 1/1 9 None None None 0.36921 0.36920 0.26074 None None None None None None DPP7|0.005146318|85.64%
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 rs10776900
dbSNP Clinvar 		137660375 1568.8 A G PASS 1/1 163 None None None 0.45387 0.45390 0.37692 None None None None None None COL5A1|0.207487878|35.85%