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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 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

ABCA1

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 rs2230805
dbSNP Clinvar
107624029 332.13 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.37240 0.37240 0.32224 None None None None None None ABCA1|0.668333708|9.43%
View manuela_niro 9 rs2066714
dbSNP Clinvar
107586753 2540.14 T C PASS 1/1 265 NON_SYNONYMOUS_CODING MODERATE None 0.35683 0.35680 0.24596 0.28 0.00 None None None None None None ABCA1|0.668333708|9.43%
View manuela_niro 9 rs2066715
dbSNP Clinvar
107588033 281.93 C T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.11322 0.11320 0.04721 1.00 0.00 None None None None None None ABCA1|0.668333708|9.43%
View manuela_niro 9 rs2853579
dbSNP Clinvar
107591272 2385.43 G T PASS 1/1 251 SYNONYMOUS_CODING LOW None 0.33906 0.33910 0.22413 None None None None None None ABCA1|0.668333708|9.43%
View manuela_niro 9 rs2230806
dbSNP Clinvar
107620867 241.24 C T PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.43970 0.43970 0.39151 0.66 0.00 None None None None None None ABCA1|0.668333708|9.43%
View manuela_niro 9 rs35204915
dbSNP Clinvar
107581042 391.52 G A PASS 0/1 207 SYNONYMOUS_CODING LOW None 0.04393 0.04393 0.04836 None None None None None None ABCA1|0.668333708|9.43%
View manuela_niro 9 rs35561837
dbSNP Clinvar
107583748 339.58 G A PASS 0/1 191 SYNONYMOUS_CODING LOW None 0.01198 0.01198 0.01292 None None None None None None ABCA1|0.668333708|9.43%

ABCA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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 rs12348881
dbSNP Clinvar
139911983 425.88 T G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.10443 0.10440 0.12916 None None None None None None ABCA2|0.074227496|56.47%
View manuela_niro 9 rs34039859
dbSNP Clinvar
139916879 259.27 C T PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.03195 0.03195 0.05812 0.23 0.01 None None None None None None ABCA2|0.074227496|56.47%
View manuela_niro 9 rs35590326
dbSNP Clinvar
139916833 123.26 T G PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.09185 0.09185 0.11928 None None None None None None ABCA2|0.074227496|56.47%

ABL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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 rs2229070
dbSNP Clinvar
133760029 75.3 C G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.10663 0.10660 0.12363 None None None None None None ABL1|0.915754224|3.1%

ACTL7A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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 rs41278347
dbSNP Clinvar
111625242 211.7 G A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00469 0.00 0.97 None None None None None None ACTL7A|0.047459247|63.47%

ADAMTS13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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 rs3124767
dbSNP Clinvar
136308542 101.33 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.49681 0.49680 0.38725 None None None None None None ADAMTS13|0.009367264|81.4%
View manuela_niro 9 rs34024143
dbSNP Clinvar
136287582 280.38 C T PASS 0/1 224 NON_SYNONYMOUS_CODING MODERATE None 0.05272 0.05272 0.09988 0.06 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View manuela_niro 9 rs28503257
dbSNP Clinvar
136319589 368.6 G A PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.01558 0.01558 0.02968 0.03 0.99 None None None None None None ADAMTS13|0.009367264|81.4%
View manuela_niro 9 rs34104386
dbSNP Clinvar
136310057 628.37 G A PASS 0/1 330 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.00408 0.07 0.51 None None None None None None ADAMTS13|0.009367264|81.4%
View manuela_niro 9 rs28641026
dbSNP Clinvar
136314952 372.62 C T PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.01577 0.01577 0.02999 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
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%
View manuela_niro 9 rs147953826
dbSNP Clinvar
18906747 346.91 C T PASS 0/1 236 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00669 None None None None None None ADAMTSL1|0.674544897|9.24%
View manuela_niro 9 rs41304755
dbSNP Clinvar
18829952 243.96 A G PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.10943 0.10940 0.17681 0.25 0.17 None None None None None None ADAMTSL1|0.674544897|9.24%
View manuela_niro 9 rs13293151
dbSNP Clinvar
18681821 119.43 A G PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.27716 0.27720 0.32608 6.08 0.07 0.71458 D None None None None ADAMTSL1|0.674544897|9.24%

ADAMTSL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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%
View manuela_niro 9 . 136435529 74.0 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.07 None None None None None None ADAMTSL2|0.0506365|62.46%
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%

AK1

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 rs61741075
dbSNP Clinvar
130635074 512.26 G A PASS 0/1 276 SYNONYMOUS_CODING LOW None 0.00998 0.00998 0.00838 None None None None None None AK1|0.26080806|30.67%

AK8

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 rs2231400
dbSNP Clinvar
135753629 52.52 A G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.11721 0.11720 0.13158 0.94 0.00 None None None None None None AK8|0.035216111|67.44%,C9orf9|0.042512541|64.95%
View manuela_niro 9 rs28477720
dbSNP Clinvar
135601126 253.85 G A PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.03015 0.03015 0.03498 None None None None None None AK8|0.035216111|67.44%

AKNA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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 rs3748178
dbSNP Clinvar
117110046 263.43 C T PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.10643 0.10640 0.15909 0.24 0.28 None None None None None None AKNA|0.005369534|85.34%

ALDH1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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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 rs201408956
dbSNP Clinvar
38396905 106.48 GC G PASS 0/1 124 FRAME_SHIFT HIGH None 0.00439 0.00439 0.00688 None None None None None None ALDH1B1|0.096225216|51.9%
View manuela_niro 9 rs145426005
dbSNP Clinvar
38396372 484.28 G A PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.00439 0.00439 0.00684 2.27 0.03 0.48454 D None None None None ALDH1B1|0.096225216|51.9%
View manuela_niro 9 rs2073477
dbSNP Clinvar
38395928 104.81 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.26777 0.26780 0.16523 None None None None None None ALDH1B1|0.096225216|51.9%

AMBP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs112109765
dbSNP Clinvar
116823774 508.98 G A PASS 0/1 294 SYNONYMOUS_CODING LOW None 0.03614 0.03614 0.03222 None None None None None None AMBP|0.0676964|57.96%

ANAPC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs11549106
dbSNP Clinvar
140079522 100.73 G A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.18510 0.18510 0.21032 None None None None None None ANAPC2|0.117211115|47.91%

ANGPTL2

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 rs7024286
dbSNP Clinvar
129851293 730.0 A C PASS 0/1 486 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.01484 None None None None None None RALGPS1|0.437653651|18.81%,ANGPTL2|0.341353132|24.75%

ANKRD18A

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 rs1832313
dbSNP Clinvar
38615698 1233.62 C T PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.42173 0.42170 0.41984 1.00 0.00 4.53 0.00 0.06282 T None None None None ANKRD18A|0.001240448|94.24%

ANKRD18B

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 rs41313776
dbSNP Clinvar
33548690 223.75 G A PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.06150 0.06150 1.00 0.00 None None None None None None ANKRD18B|0.001295646|93.93%

APBA1

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 rs34788368
dbSNP Clinvar
72131577 215.91 A C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.20328 0.20330 0.15325 1.00 0.00 None None None None None None APBA1|0.50040617|15.79%

ARID3C

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 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%

ARRDC1

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 rs113469851
dbSNP Clinvar
140509239 98.3 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.01178 0.01178 0.01223 0.02 0.04 None None None None None None ARRDC1|0.043457377|64.67%

ASB6

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 rs3739851
dbSNP Clinvar
132400480 349.12 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.46146 0.46150 0.47178 None None None None None None ASB6|0.071590826|57.08%

ASPN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 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%

ASS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs1057484
dbSNP Clinvar
133364757 194.36 T C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.10288 None None None None None None ASS1|0.463790404|17.47%

BSPRY

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs3088235
dbSNP Clinvar
116132334 783.78 C T PASS 0/1 655 NON_SYNONYMOUS_CODING MODERATE None 0.12580 0.12580 0.14343 0.07 0.29 None None None None None None BSPRY|0.077695402|55.74%

C5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs41258306
dbSNP Clinvar
123716103 35.71 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.05232 0.05232 0.06881 None None None None None None C5|0.070590656|57.35%
View manuela_niro 9 rs10985126
dbSNP Clinvar
123783934 180.81 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.24121 0.24120 0.24796 None None None None None None C5|0.070590656|57.35%
View manuela_niro 9 rs17612
dbSNP Clinvar
123725926 339.25 T G PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.03534 0.03534 0.05390 0.17 0.07 None None None None None None C5|0.070590656|57.35%
View manuela_niro 9 rs17216529
dbSNP Clinvar
123800218 59.66 C T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.14657 0.14660 0.12396 0.10 0.40 None None None None None None C5|0.070590656|57.35%

C8G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs20574
dbSNP Clinvar
139840580 57.14 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.10843 0.10840 0.15759 None None None None None None C8G|0.005774139|84.88%
View manuela_niro 9 rs17613
dbSNP Clinvar
139840560 123.28 C A PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.10783 0.10780 0.15710 0.08 0.02 None None None None None None C8G|0.005774139|84.88%

C9orf114

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs6478854
dbSNP Clinvar
131588888 270.4 G C PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.46146 0.46150 0.42027 0.55 0.00 None None None None None None C9orf114|0.115068599|48.31%
View manuela_niro 9 rs7033070
dbSNP Clinvar
131586374 907.16 G A PASS 0/1 421 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.33092 None None None None None None C9orf114|0.115068599|48.31%

C9orf117

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 rs61738576
dbSNP Clinvar
130471764 272.1 G T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.01657 0.01657 0.01545 0.00 1.00 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%
View manuela_niro 9 rs73600054
dbSNP Clinvar
130474932 414.5 C G PASS 0/1 148 None None None 0.00040 0.07927 0.86 0.00 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%

C9orf129

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs4744219
dbSNP Clinvar
96097662 64.48 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.06290 0.06290 0.01 0.70 None None None None None None C9orf129|0.002952224|88.72%

C9orf139

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs12337910
dbSNP Clinvar
139929435 438.05 A G PASS 0/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.08846 0.08846 0.11743 0.33 0.00 None None None None None None C9orf139|0.000737675|97.09%

C9orf152

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 rs4978888
dbSNP Clinvar
112963702 235.81 G A PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.21805 0.21810 0.20460 None None None None None None C9orf152|0.005537676|85.17%

C9orf156

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs3183928
dbSNP Clinvar
100684719 40.3 A C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.26518 0.26520 0.30684 None None None None None None C9orf156|0.045575109|64.03%
View manuela_niro 9 rs2282192
dbSNP Clinvar
100672338 362.23 C T PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.58926 0.58930 0.41927 0.10 0.01 None None None None None None C9orf156|0.045575109|64.03%
View manuela_niro 9 rs3183927
dbSNP Clinvar
100684757 44.02 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.30403 1.00 0.00 None None None None None None C9orf156|0.045575109|64.03%

C9orf24

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 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%

C9orf43

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 rs113088354
dbSNP Clinvar
116181419 297.64 A G PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.01553 0.13 0.98 None None None None None None C9orf43|0.002847419|88.94%

C9orf57

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 rs13295099
dbSNP Clinvar
74671719 98.23 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.26637 0.26640 0.45751 None None None None None None C9orf57|0.002778845|89.07%

C9orf66

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 rs636922
dbSNP Clinvar
215269 243.72 A C PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.17951 0.17950 0.18242 0.00 0.88 0.95 None None None None None None C9orf66|0.001400142|93.34%,DOCK8|0.209041054|35.69%
View manuela_niro 9 rs141134256
dbSNP Clinvar
215060 29.49 G T PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.00978 0.00978 0.00995 0.06 0.01 1.18 None None None None None None C9orf66|0.001400142|93.34%,DOCK8|0.209041054|35.69%
View manuela_niro 9 rs481905
dbSNP Clinvar
215057 29.49 T C PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.42916 0.93 0.00 0.12 None None None None None None C9orf66|0.001400142|93.34%,DOCK8|0.209041054|35.69%
View manuela_niro 9 rs540473
dbSNP Clinvar
214706 45.65 G C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.54393 0.54390 0.38912 1.00 0.00 1.88 None None None None None None C9orf66|0.001400142|93.34%

C9orf72

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 rs10122902
dbSNP Clinvar
27556780 89.94 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.22644 0.22640 0.19622 None None None None None None C9orf72|0.601600772|11.73%

CA9

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 rs2071676
dbSNP Clinvar
35674053 197.48 G A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.32328 0.32330 0.26911 0.00 0.00 None None None None None None ARHGEF39|0.293829153|28.14%,CA9|0.090992438|53.04%

CAMSAP1

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 rs35981196
dbSNP Clinvar
138742077 29.48 C G PASS 0/1 14 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12161 0.12160 0.18507 None None None None None None CAMSAP1|0.009681394|81.07%
View manuela_niro 9 rs148770698
dbSNP Clinvar
138719388 491.45 G A PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00031 0.00 0.63 None None None None None None CAMSAP1|0.009681394|81.07%

CCDC171

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 rs4741510
dbSNP Clinvar
15591372 69.09 T A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.35403 0.35400 0.29826 0.44 0.00 None None None None None None CCDC171|0.463103481|17.52%
View manuela_niro 9 rs1539172
dbSNP Clinvar
15784631 46.85 A G PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.47444 0.47440 0.48047 1.00 0.00 None None None None None None CCDC171|0.463103481|17.52%

CCDC180

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 rs3747507
dbSNP Clinvar
100071728 626.7 G A PASS 0/1 274 SYNONYMOUS_CODING LOW None 0.27256 0.27260 0.21144 None None None None None None CCDC180|0.009048134|81.61%
View manuela_niro 9 rs3747495
dbSNP Clinvar
100122291 61.27 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.23143 0.23140 0.16961 0.18 0.00 None None None None None None CCDC180|0.009048134|81.61%
View manuela_niro 9 rs11581
dbSNP Clinvar
100139161 210.97 A G PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.30501 None None None None None None CCDC180|0.009048134|81.61%
View manuela_niro 9 rs3747504
dbSNP Clinvar
100074446 375.78 C T PASS 0/1 225 SYNONYMOUS_CODING LOW None 0.27556 0.27560 0.21375 None None None None None None CCDC180|0.009048134|81.61%

CCDC183

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 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%
View manuela_niro 9 rs4546744
dbSNP Clinvar
139694521 53.45 T G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.22090 0.33 0.96 None None None None None None CCDC183|0.008607559|82.03%
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%

CDK5RAP2

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 rs6478475
dbSNP Clinvar
123182202 243.44 C T PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.08666 0.08666 0.09403 None None None None None None CDK5RAP2|0.080331777|55.08%
View manuela_niro 9 rs2501727
dbSNP Clinvar
123220829 566.31 A G PASS 0/1 280 SYNONYMOUS_CODING LOW None 0.23283 0.23280 0.18407 None None None None None None CDK5RAP2|0.080331777|55.08%
View manuela_niro 9 rs3780679
dbSNP Clinvar
123205912 641.07 C G PASS 0/1 301 NON_SYNONYMOUS_CODING MODERATE None 0.07528 0.07528 0.08119 1.00 0.00 None None None None None None CDK5RAP2|0.080331777|55.08%

CEP78

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 rs10867166
dbSNP Clinvar
80851350 429.48 G C PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.28375 0.28370 0.30126 None None None None None None CEP78|0.110277996|49.15%

CERCAM

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 rs7259
dbSNP Clinvar
131196704 27.79 G A PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.37620 0.37620 0.32477 None None None None None None CERCAM|0.14529477|43.67%

CIZ1

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 rs45554035
dbSNP Clinvar
130941377 199.36 T C PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.01218 0.01218 0.00846 0.18 0.70 None None None None None None CIZ1|0.021318339|73.52%

CLTA

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 . 36191236 22.08 G C PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None CLTA|0.554304786|13.54%

CNTNAP3

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 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%

CNTNAP3B

Omim - GeneCards - NCBI
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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 rs62536501
dbSNP Clinvar
43861081 23.18 T G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.40 0.00 None None None None None None CNTNAP3B|0.003821974|87.27%
View manuela_niro 9 rs3739620
dbSNP Clinvar
43822762 15.78 C T PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.39317 0.39320 0.78 0.01 None None None None None None CNTNAP3B|0.003821974|87.27%

CNTRL

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 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%

COL15A1

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 rs35250850
dbSNP Clinvar
101778272 349.98 A C PASS 0/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.06390 0.08519 0.18 0.00 None None None None None None COL15A1|0.059345569|60.08%
View manuela_niro 9 rs4480177
dbSNP Clinvar
101822220 405.43 C T PASS 0/1 195 SYNONYMOUS_CODING LOW None 0.38538 0.38540 0.26334 None None None None None None COL15A1|0.059345569|60.08%
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%

COL27A1

Omim - GeneCards - NCBI
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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 rs73656040
dbSNP Clinvar
117063396 315.65 G A PASS 0/1 208 SYNONYMOUS_CODING LOW None 0.03634 0.03634 0.06090 None None None None None None COL27A1|0.069704494|57.54%
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%
View manuela_niro 9 rs1687410
dbSNP Clinvar
117051020 397.22 A G PASS 0/1 217 SYNONYMOUS_CODING LOW None 0.23423 0.23420 0.19852 None None None None None None COL27A1|0.069704494|57.54%

COL5A1

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 rs2228560
dbSNP Clinvar
137711997 502.38 G C PASS 0/1 305 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%

CRAT

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 rs2228304
dbSNP Clinvar
131866523 388.81 C G PASS 0/1 164 SYNONYMOUS_CODING LOW None 0.14317 0.14320 0.11175 None None None None None None CRAT|0.115517986|48.2%

CRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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 rs2488599
dbSNP Clinvar
126136247 55.49 A G PASS 0/1 22 None None None 0.44908 0.44910 0.32062 0.07 0.00 None None None None None None CRB2|0.035723803|67.22%
View manuela_niro 9 rs73571431
dbSNP Clinvar
126136139 81.17 C T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.10583 0.10580 0.08835 0.11 0.27 None None None None None None CRB2|0.035723803|67.22%