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+ Genes 288

Genes:
ABHD12, ACSS1, ACSS2, ACTR5, ADA, ADAM33, ADIG, ADRM1, ANGPT4, ANKEF1, ANKRD60, APCDD1L, APMAP, ARFGEF2, ARHGAP40, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BANF2, BCAS1, BFSP1, BIRC7, BMP2, BMP7, BPI, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf173, C20orf194, C20orf195, C20orf196, C20orf201, C20orf26, C20orf96, CABLES2, CBFA2T2, CCM2L, CD93, CDH4, CDK5RAP1, CEP250, CHD6, CHGB, CHRNA4, CNBD2, COL20A1, COL9A3, CPNE1, CPXM1, CRNKL1, CSRP2BP, CST1, CST2, CST3, CST7, CST8, CST9, CST9L, CSTL1, CTCFL, CTSA, CTSZ, DBNDD2, DDRGK1, DDX27, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DNMT3B, DUSP15, DYNLRB1, DZANK1, EDEM2, EFCAB8, ELMO2, ENTPD6, EPPIN, ESF1, EYA2, FAM110A, FAM182B, FAM209B, FAM210B, FAM65C, FAM83C, FAM83D, FITM2, FLRT3, FOXA2, FRG1B, GATA5, GDF5, GDF5OS, GFRA4, GGT7, GMEB2, GNAS, GNRH2, GZF1, HELZ2, HRH3, HSPA12B, ID1, IFT52, ISM1, ITPA, JAG1, JPH2, KCNG1, KCNK15, KCNQ2, KCNS1, KIAA1755, KIF16B, LAMA5, LBP, LPIN3, LRRN4, LZTS3, MACROD2, MATN4, MAVS, MC3R, MGME1, MKKS, MMP9, MROH8, MYBL2, MYH7B, MYT1, NAA20, NCOA3, NCOA5, NCOA6, NFATC2, NINL, NKAIN4, NOP56, NPBWR2, NPEPL1, NSFL1C, OPRL1, OSBPL2, PABPC1L, PAK7, PANK2, PCK1, PDYN, PIGT, PLAGL2, PLCB1, PLCB4, PLCG1, PMEPA1, POFUT1, POLR3F, PPP1R16B, PREX1, PRND, PRNP, PRNT, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTPN1, PTPRA, PTPRT, PYGB, R3HDML, RAD21L1, RALY, RASSF2, RBBP8NL, RBCK1, RBM12, REM1, RP11-352D3.2, RP11-410N8.4, RP11-429E11.3, RP11-93B14.6, RP4-576H24.4, RPN2, RPS21, RRBP1, RSPO4, RTEL1, RTEL1-TNFRSF6B, SALL4, SAMD10, SDC4, SDCBP2, SEL1L2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLA2, SLC12A5, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC32A1, SLC4A11, SLC52A3, SLC9A8, SMOX, SNAI1, SNPH, SNX21, SOGA1, SPAG4, SPATA2, SPINT3, SPINT4, SPTLC3, SRC, SRSF6, SSTR4, STK4, STX16, SULF2, SUN5, SYCP2, TAF4, TCF15, TCFL5, TFAP2C, TGM2, TGM3, TGM6, TLDC2, TMC2, TMEM189-UBE2V1, TMEM230, TNFRSF6B, TNNC2, TOMM34, TOX2, TP53INP2, TP53TG5, TPX2, TRIB3, TRPC4AP, TSHZ2, TTI1, TTLL9, TUBB1, UBE2V1, UQCC1, VPS16, VSX1, WFDC10B, WFDC3, WFDC8, WISP2, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF217, ZNF335, ZNF512B, ZNF831, ZNFX1, ZSWIM1, ZSWIM3,

+ Genes associated with diseases 60

Genes at Omim

ABHD12, ADA, ARFGEF2, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, DDRGK1, DNMT3B, ELMO2, FLRT3, GATA5, GDF5, GNAS, GZF1, IFT52, ITPA, JAG1, JPH2, KCNQ2, MC3R, MGME1, MKKS, MMP9, NOP56, OSBPL2, PANK2, PCK1, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, PTGIS, PTPN1, RBCK1, RBM12, RSPO4, RTEL1, SALL4, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SRC, STK4, STX16, SUN5, TGM3, TGM6, TUBB1, VSX1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ARFGEF2 Periventricular heterotopia with microcephaly, 608097 (3)
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
AURKA {Colon cancer, susceptibility to}, 114500 (3)
BFSP1 Cataract 33, multiple types, 611391 (3)
BMP2 {HFE hemochromatosis, modifier of}, 235200 (3)
Brachydactyly, type A2, 112600 (3)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
CHRNA4 {Nicotine addiction, susceptibility to}, 188890 (3)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CTSA Galactosialidosis, 256540 (3)
DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GATA5 Congenital heart defects, multiple types, 5, 617912 (3)
GDF5 Brachydactyly, type A1, C, 615072 (3)
Brachydactyly, type A2, 112600 (3)
Brachydactyly, type C, 113100 (3)
Chondrodysplasia, Grebe type, 200700 (3)
{Osteoarthritis-5}, 612400 (3)
Du Pan syndrome, 228900 (3)
Multiple synostoses syndrome 2, 610017 (3)
?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)
Symphalangism, proximal, 1B, 615298 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
GZF1 Joint laxity, short stature, and myopia, 617662 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
ITPA Epileptic encephalopathy, early infantile, 35, 616647 (3)
[Inosine triphosphatase deficiency], 613850 (3)
JAG1 Alagille syndrome 1, 118450 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
Tetralogy of Fallot, 187500 (3)
JPH2 Cardiomyopathy, hypertrophic, 17, 613873 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
MC3R {Mycobacterium tuberculosis, protection against}, 607948 (3)
{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MKKS Bardet-Biedl syndrome 6, 605231 (3)
McKusick-Kaufman syndrome, 236700 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
OSBPL2 Deafness, autosomal dominant 67, 616340 (3)
PANK2 HARP syndrome, 607236 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PDYN Spinocerebellar ataxia 23, 610245 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
PTGIS Hypertension, essential, 145500 (3)
PTPN1 {Insulin resistance, susceptibility to}, 125853 (3)
RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
RBM12 {Schizophrenia 19, susceptibility to}, 617629 (3)
RSPO4 Anonychia congenita, 206800 (3)
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4 IVIC syndrome, 147750 (3)
Duane-radial ray syndrome, 607323 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)
STK4 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
SUN5 Spermatogenic failure 16, 617187 (3)
TGM3 ?Uncombable hair syndrome 2, 617251 (3)
TGM6 Spinocerebellar ataxia 35, 613908 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, DNMT3B, FLRT3, GDF5, GNAS, ITPA, JAG1, JPH2, KCNQ2, MGME1, MKKS, MMP9, NOP56, OSBPL2, PANK2, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, RBCK1, RSPO4, RTEL1, SALL4, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SRC, STK4, STX16, TGM6, TUBB1, VSX1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ARFGEF2 Heterotopia, periventricular, autosomal recessive
ASXL1 Bohring-Opitz syndrome
BFSP1 Cataract, cortical, juvenile-onset
BMP2 Brachydactyly, type A2
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CTSA Galactosialidosis
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GDF5 Acromesomelic dysplasia, Hunter-Thompson type
Fibular hypoplasia and complex brachydactyly
Multiple synostoses syndrome 2
Chondrodysplasia, Grebe type
Symphalangism, proximal 1B
Brachydactyly, type A1
Brachydactyly, type A1, C
Brachydactyly, type A2
Brachydactyly, type C
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
ITPA Inosine triphosphatase deficiency
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
MGME1 Mitochondrial DNA depletion syndrome 11
MKKS McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
OSBPL2 Deafness, autosomal dominant 67
PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
PDYN Spinocerebellar ataxia 23
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PLCB4 Auriculocondylar syndrome 2
POFUT1 Dowling-Degos disease 2
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
PRPF6 Retinitis pigmentosa 60
RBCK1 Polyglucosan body myopathy 1
RSPO4 Anonychia/hyponychia congenita
RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
SALL4 Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC4A11 Cryohydrocytosis
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SRC Thrombocytopenia, autosomal dominant, 6
STK4 T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, with or without cardiac malformations
STX16 Pseudohypoparathyroidism, type IB
TGM6 Spinocerebellar ataxia 35
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 5658
Number of Genes: 288

Export to: CSV

ABHD12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3404_16 20 rs10966
dbSNP Clinvar 		25282944 6866.9 A G PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.54153 0.54150 0.44141 None None None None None None ABHD12|0.092039068|52.8%
View snps raw-variants selected 3404_16 20 rs3215644
dbSNP Clinvar 		25283938 8892.86 A AG PASS 1/1 71 None None None 0.54153 0.54150 None None None None None None ABHD12|0.092039068|52.8%

ACSS1
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 snps raw-variants selected 3404_16 20 rs6115001
dbSNP Clinvar 		24994275 2309.9 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.07568 0.07568 0.10403 None None None None None None ACSS1|0.048821607|63.01%
View snps raw-variants selected 3404_16 20 rs6050259
dbSNP Clinvar 		25011423 4727.9 T C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.30540 None None None None None None ACSS1|0.048821607|63.01%
View snps raw-variants selected 3404_16 20 rs6115003
dbSNP Clinvar 		25000734 1592.9 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.10903 0.10900 0.13609 None None None None None None ACSS1|0.048821607|63.01%
View snps raw-variants selected 3404_16 20 rs41308619
dbSNP Clinvar 		25003705 1524.9 A C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.03514 0.03514 0.04613 None None None None None None ACSS1|0.048821607|63.01%

ACSS2
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 snps raw-variants selected 3404_16 20 rs4911163
dbSNP Clinvar 		33470694 4581.94 C T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.51218 0.51220 0.43434 None None None None None None ACSS2|0.488270454|16.4%

ACTR5
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 snps raw-variants selected 3404_16 20 rs2245231
dbSNP Clinvar 		37396120 5069.92 A G PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.43331 0.43330 0.44157 0.40 0.00 None None None None None None ACTR5|0.119979077|47.44%
View snps raw-variants selected 3404_16 20 rs2254105
dbSNP Clinvar 		37377139 125.17 C T PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.24501 0.24500 None None None None None None ACTR5|0.119979077|47.44%
View snps raw-variants selected 3404_16 20 rs2748663
dbSNP Clinvar 		37383640 2195.9 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.23922 0.23920 0.24673 None None None None None None ACTR5|0.119979077|47.44%

ADA
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 snps raw-variants selected 3404_16 20 rs244076
dbSNP Clinvar 		43252915 1448.9 T C PASS 0/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26578 0.26580 0.24858 None None None None None None ADA|0.574821556|12.82%
View snps raw-variants selected 3404_16 20 rs11555566
dbSNP Clinvar 		43255220 1670.9 T C PASS 0/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05272 0.05272 0.06505 0.38 0.02 None None None None None None ADA|0.574821556|12.82%
View snps raw-variants selected 3404_16 20 rs394105
dbSNP Clinvar 		43264927 5193.35 C T PASS 1/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM33
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 snps raw-variants selected 3404_16 20 rs528557
dbSNP Clinvar 		3651742 5446.9 C G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.38778 0.38780 0.38944 None None None None None None ADAM33|0.021575059|73.4%
View snps raw-variants selected 3404_16 20 rs2280091
dbSNP Clinvar 		3650234 2601.9 A G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.13419 0.13420 0.13396 0.28 0.02 None None None None None None ADAM33|0.021575059|73.4%
View snps raw-variants selected 3404_16 20 rs2280090
dbSNP Clinvar 		3650205 1866.9 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.14437 0.14440 0.13559 0.10 0.01 None None None None None None ADAM33|0.021575059|73.4%
View snps raw-variants selected 3404_16 20 rs2271511
dbSNP Clinvar 		3654433 414.9 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.27536 0.27540 0.21291 None None None None None None ADAM33|0.021575059|73.4%

ADIG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3404_16 20 rs191220166
dbSNP Clinvar 		37214100 3140.9 C T PASS 0/1 120 None None None 0.00040 0.00040 None None None None None None ADIG|0.001817176|91.49%

ADRM1
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 snps raw-variants selected 3404_16 20 rs2427273
dbSNP Clinvar 		60881330 4351.33 G A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%
View snps raw-variants selected 3404_16 20 rs2427275
dbSNP Clinvar 		60881780 4247.33 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%

ANGPT4
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 snps raw-variants selected 3404_16 20 rs944110
dbSNP Clinvar 		854940 3178.95 T C PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.51298 0.51300 0.39090 None None None None None None ANGPT4|0.024319862|72.08%

ANKEF1
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 snps raw-variants selected 3404_16 20 rs575534
dbSNP Clinvar 		10019093 7537.9 A G PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.35514 None None None None None None ANKEF1|0.06517726|58.59%

ANKRD60
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3404_16 20 rs1192511
dbSNP Clinvar 		56793764 5767.9 G A PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%
View snps raw-variants selected 3404_16 20 rs584855
dbSNP Clinvar 		56793706 6087.9 G A PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.21397 0.04 0.93 None None None None None None ANKRD60|0.001529196|92.64%

APCDD1L
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 snps raw-variants selected 3404_16 20 rs1980576
dbSNP Clinvar 		57045667 3296.9 T C PASS 0/1 138 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%
View snps raw-variants selected 3404_16 20 rs3946003
dbSNP Clinvar 		57045765 2256.9 A G PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.46086 0.46090 0.40602 1.00 0.00 None None None None None None APCDD1L|0.016982669|75.86%

APMAP
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 snps raw-variants selected 3404_16 20 rs11550623
dbSNP Clinvar 		24973247 478.9 C A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.06689 0.06689 0.08469 None None None None None None APMAP|0.054668543|61.28%

ARFGEF2
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 snps raw-variants selected 3404_16 20 rs2281582
dbSNP Clinvar 		47630449 2103.9 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.20847 0.20850 0.11303 None None None None None None ARFGEF2|0.303924468|27.35%

ARHGAP40
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 snps raw-variants selected 3404_16 20 rs141476666
dbSNP Clinvar 		37267979 1235.9 C T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00110 0.00 1.00 None None None None None None ARHGAP40|0.014368541|77.58%
View snps raw-variants selected 3404_16 20 rs115554363
dbSNP Clinvar 		37272390 873.9 A T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.00699 0.00699 0.00810 0.02 0.08 None None None None None None ARHGAP40|0.014368541|77.58%
View snps raw-variants selected 3404_16 20 rs6070809
dbSNP Clinvar 		37257590 1283.94 C G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.36597 None None None None None None ARHGAP40|0.014368541|77.58%

ASXL1
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 snps raw-variants selected 3404_16 20 rs6058694
dbSNP Clinvar 		31022959 10773.3 T C PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 0.27 0.00 None None None None None None ASXL1|0.399812505|20.78%
View snps raw-variants selected 3404_16 20 rs62206933
dbSNP Clinvar 		31023500 1970.9 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.04014 0.04014 0.01822 None None None None None None ASXL1|0.399812505|20.78%

ATP9A
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 snps raw-variants selected 3404_16 20 rs2255341
dbSNP Clinvar 		50287736 8681.9 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.46555 None None None None None None ATP9A|0.17091233|40.18%
View snps raw-variants selected 3404_16 20 rs2255342
dbSNP Clinvar 		50287790 10635.3 A G PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%

ATRN
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 snps raw-variants selected 3404_16 20 rs2246808
dbSNP Clinvar 		3624830 2724.9 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.38259 0.38260 0.44987 None None None None None None ATRN|0.348885303|24.22%
View snps raw-variants selected 3404_16 20 rs235540
dbSNP Clinvar 		3564672 5443.9 C T PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%

AURKA
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 snps raw-variants selected 3404_16 20 rs1047972
dbSNP Clinvar 		54961463 8502.35 T C PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.84984 0.84980 0.16223 1.00 0.00 None None None None None None AURKA|0.191109207|37.7%
View snps raw-variants selected 3404_16 20 rs142322743
dbSNP Clinvar 		54963233 2049.9 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.00399 0.00399 0.00192 None None None None None None AURKA|0.191109207|37.7%

B4GALT5
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 snps raw-variants selected 3404_16 20 rs421801
dbSNP Clinvar 		48257149 10779.3 C T PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%
View snps raw-variants selected 3404_16 20 rs2235855
dbSNP Clinvar 		48259034 6686.92 A G PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.44669 0.44670 0.47709 None None None None None None B4GALT5|0.192081933|37.58%

BANF2
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 snps raw-variants selected 3404_16 20 rs1053993
dbSNP Clinvar 		17716416 1556.9 C G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.39237 0.39240 0.34853 0.40 0.00 None None None None None None BANF2|0.055467464|61.07%
View snps raw-variants selected 3404_16 20 rs4814640
dbSNP Clinvar 		17705677 10491.3 A G PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.94329 0.94330 0.06459 0.20 0.00 None None None None None None BANF2|0.055467464|61.07%

BCAS1
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 snps raw-variants selected 3404_16 20 rs35575210
dbSNP Clinvar 		52573971 1672.9 T G PASS 0/1 67 None None None 0.13219 0.13220 0.14224 0.11 0.18 None None None None None None BCAS1|0.015654771|76.67%
View snps raw-variants selected 3404_16 20 rs394732
dbSNP Clinvar 		52675188 2170.9 G T PASS 1/1 22 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.57608 0.57610 0.46033 1.00 0.00 None None None None None None BCAS1|0.015654771|76.67%
View snps raw-variants selected 3404_16 20 rs1055246
dbSNP Clinvar 		52561469 2759.92 A G PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.12999 0.13000 0.12079 0.00 1.00 None None None None None None BCAS1|0.015654771|76.67%

BFSP1
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 snps raw-variants selected 3404_16 20 rs6080717
dbSNP Clinvar 		17474791 1676.9 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.27649 None None None None None None BFSP1|0.019258664|74.54%
View snps raw-variants selected 3404_16 20 rs6080718
dbSNP Clinvar 		17474968 8484.35 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%

BIRC7
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 snps raw-variants selected 3404_16 20 rs6010878
dbSNP Clinvar 		61869607 2497.9 C A PASS 0/1 50 None None None 0.66414 0.66410 1.00 0.00 None None None None None None BIRC7|0.003576281|87.65%
View snps raw-variants selected 3404_16 20 rs2273487
dbSNP Clinvar 		61869826 4255.9 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.44489 0.44490 0.43433 None None None None None None BIRC7|0.003576281|87.65%

BMP2
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 snps raw-variants selected 3404_16 20 rs1049007
dbSNP Clinvar 		6751034 3007.9 A G PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%
View snps raw-variants selected 3404_16 20 rs235768
dbSNP Clinvar 		6759115 9834.9 A T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.76677 0.76680 0.27069 0.00 0.87 None None None None None None BMP2|0.997316737|0.64%

BMP7
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 snps raw-variants selected 3404_16 20 rs6070031
dbSNP Clinvar 		55800937 5164.92 C T PASS 0/1 88 None None None 0.27217 0.27220 None None None None None None BMP7|0.992789544|0.96%

BPI
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 snps raw-variants selected 3404_16 20 rs5741809
dbSNP Clinvar 		36956026 1811.9 A G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.16753 0.16750 0.05498 0.93 0.00 None None None None None None BPI|0.001345673|93.63%
View snps raw-variants selected 3404_16 20 rs4358188
dbSNP Clinvar 		36946848 3342.9 G A PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.43510 0.43510 0.49531 1.00 0.00 None None None None None None BPI|0.001345673|93.63%

BPIFA3
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 snps raw-variants selected 3404_16 20 rs3818222
dbSNP Clinvar 		31812923 2785.94 G A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41673 1.00 0.00 None None None None None None BPIFA3|0.004260948|86.67%

BPIFB1
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 snps raw-variants selected 3404_16 20 rs1078761
dbSNP Clinvar 		31876681 1321.9 A G PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.34154 0.09 0.06 None None None None None None BPIFB1|0.002984777|88.67%
View snps raw-variants selected 3404_16 20 rs1999663
dbSNP Clinvar 		31897554 3021.35 G C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.67532 0.67530 0.43219 0.61 0.00 None None None None None None BPIFB1|0.002984777|88.67%

BPIFB2
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 snps raw-variants selected 3404_16 20 rs17124003
dbSNP Clinvar 		31609581 4340.9 C T PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.32029 0.32030 0.33777 None None None None None None BPIFB2|0.006724294|83.8%

BPIFB3
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 snps raw-variants selected 3404_16 20 rs6057717
dbSNP Clinvar 		31656632 3296.35 C G PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.48203 0.48200 0.34069 0.17 0.11 None None None None None None BPIFB3|0.02436257|72.06%
View snps raw-variants selected 3404_16 20 rs4911290
dbSNP Clinvar 		31652292 4710.35 G A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.49002 0.49000 0.35276 0.02 0.18 None None None None None None BPIFB3|0.02436257|72.06%

BPIFB4
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 snps raw-variants selected 3404_16 20 rs11696307
dbSNP Clinvar 		31688260 1978.92 C T PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.40797 0.17 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View snps raw-variants selected 3404_16 20 rs11699009
dbSNP Clinvar 		31688241 2242.92 T C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.51578 0.51580 0.36445 1.00 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View snps raw-variants selected 3404_16 20 rs2889732
dbSNP Clinvar 		31676804 2819.9 A C PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.55152 0.55150 0.42134 0.04 0.68 None None None None None None BPIFB4|0.029100431|69.82%
View snps raw-variants selected 3404_16 20 rs2070325
dbSNP Clinvar 		31673846 2755.9 A G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.46546 0.46550 0.32946 0.02 0.42 None None None None None None BPIFB4|0.029100431|69.82%

BPIFB6
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 snps raw-variants selected 3404_16 20 rs4911287
dbSNP Clinvar 		31627291 9235.35 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.60643 0.60640 0.48470 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%
View snps raw-variants selected 3404_16 20 rs2070317
dbSNP Clinvar 		31622083 5159.35 G A PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.56909 0.56910 0.48831 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%

C20orf166
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 snps raw-variants selected 3404_16 20 rs6062251
dbSNP Clinvar 		61162267 2847.35 T C PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.57668 0.57670 0.36851 1.00 0.00 None None None None None None MIR1-1HG|0.000293671|99.44%
View snps raw-variants selected 3404_16 20 rs6143064
dbSNP Clinvar 		61167883 8364.33 G A PASS 0/1 74 SYNONYMOUS_STOP LOW None 0.26358 0.26360 0.29365 None None None None None None MIR1-1HG|0.000293671|99.44%

C20orf173
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 snps raw-variants selected 3404_16 20 rs7261862
dbSNP Clinvar 		34116282 4392.94 T C PASS 0/1 83 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.22764 0.22760 0.20521 1.00 0.00 None None None None None None C20orf173|0.002190655|90.45%

C20orf194
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 snps raw-variants selected 3404_16 20 rs2422864
dbSNP Clinvar 		3285140 5902.35 T C PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.93371 0.93370 0.12173 1.00 0.00 None None None None None None C20orf194|0.217196802|34.71%
View snps raw-variants selected 3404_16 20 rs2254916
dbSNP Clinvar 		3285126 4050.9 A T PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.23607 None None None None None None C20orf194|0.217196802|34.71%

C20orf195
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 snps raw-variants selected 3404_16 20 rs3746348
dbSNP Clinvar 		62187187 1542.33 T C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.66314 0.66310 0.46071 None None None None None None C20orf195|0.069407522|57.62%
View snps raw-variants selected 3404_16 20 rs734750
dbSNP Clinvar 		62187439 1004.33 T C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.68371 0.68370 0.49354 None None None None None None C20orf195|0.069407522|57.62%

C20orf196
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 snps raw-variants selected 3404_16 20 rs1699233
dbSNP Clinvar 		5843812 3955.92 T C PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.43311 0.43310 0.48716 None None None None None None C20orf196|0.008754295|81.9%

C20orf201
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 snps raw-variants selected 3404_16 20 rs6010717
dbSNP Clinvar 		62714783 1757.9 C G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.62460 0.62460 0.37159 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26
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 snps raw-variants selected 3404_16 20 rs6081901
dbSNP Clinvar 		20144772 1754.9 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.44403 0.37 0.00 None None None None None None CFAP61|0.103943105|50.42%

C20orf96
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 snps raw-variants selected 3404_16 20 rs2277781
dbSNP Clinvar 		257733 1800.94 A G PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%
View snps raw-variants selected 3404_16 20 rs7271033
dbSNP Clinvar 		259969 794.94 G C PASS 0/1 9 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%
View snps raw-variants selected 3404_16 20 rs3827147
dbSNP Clinvar 		256727 2832.94 T A PASS 0/1 34 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None C20orf96|0.00266282|89.34%

CABLES2
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 snps raw-variants selected 3404_16 20 rs6089219
dbSNP Clinvar 		60966318 6372.35 G T PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None CABLES2|0.058513615|60.25%
View snps raw-variants selected 3404_16 20 rs13042761
dbSNP Clinvar 		60966374 735.33 G C PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.10787 None None None None None None CABLES2|0.058513615|60.25%

CBFA2T2
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 snps raw-variants selected 3404_16 20 rs3803939
dbSNP Clinvar 		32212690 7470.92 C T PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CCM2L
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 snps raw-variants selected 3404_16 20 rs139704146,rs78827511
dbSNP Clinvar 		30619042 4313.9 T TGAC PASS 0/1 68 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None CCM2L|0.097070996|51.71%

CD93
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 snps raw-variants selected 3404_16 20 rs3746732
dbSNP Clinvar 		23065342 5473.35 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.77975 0.77980 0.24642 None None None None None None CD93|0.003918213|87.15%
View snps raw-variants selected 3404_16 20 rs3746731
dbSNP Clinvar 		23065209 3245.9 G A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.54113 0.54110 0.49908 0.17 0.09 None None None None None None CD93|0.003918213|87.15%

CDH4
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 snps raw-variants selected 3404_16 20 rs6142884
dbSNP Clinvar 		60503350 7568.33 A G PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.56729 0.56730 0.44802 1.00 0.00 None None None None None None CDH4|0.197684425|36.97%
View snps raw-variants selected 3404_16 20 rs2427240
dbSNP Clinvar 		60485627 4805.35 C T PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.70487 0.70490 0.17000 None None None None None None CDH4|0.197684425|36.97%

CDK5RAP1
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 snps raw-variants selected 3404_16 20 rs291700
dbSNP Clinvar 		31981849 3580.9 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.59565 0.59560 0.36552 None None None None None None CDK5RAP1|0.141646377|44.19%

CEP250
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 snps raw-variants selected 3404_16 20 rs3748433
dbSNP Clinvar 		34090519 5730.94 G A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.13818 0.13820 0.11272 1.00 0.00 None None None None None None CEP250|0.102943293|50.61%
View snps raw-variants selected 3404_16 20 rs224362
dbSNP Clinvar 		34062642 7234.94 C T PASS 0/1 161 None None None 0.42752 0.42750 None None None None None None CEP250|0.102943293|50.61%

CHD6
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 snps raw-variants selected 3404_16 20 rs3746543
dbSNP Clinvar 		40034097 2745.92 A G PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.17272 0.17270 0.07535 None None None None None None CHD6|0.425022636|19.36%
View snps raw-variants selected 3404_16 20 rs2235589
dbSNP Clinvar 		40043913 3866.92 C T PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.12899 0.12900 0.04021 None None None None None None CHD6|0.425022636|19.36%

CHGB
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 snps raw-variants selected 3404_16 20 rs236150
dbSNP Clinvar 		5903141 1954.9 G C PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.07109 0.07109 0.07181 0.44 0.09 None None None None None None CHGB|0.023575586|72.37%
View snps raw-variants selected 3404_16 20 rs236151
dbSNP Clinvar 		5903517 7360.9 A G PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.20152 0.69 0.00 None None None None None None CHGB|0.023575586|72.37%
View snps raw-variants selected 3404_16 20 rs236152
dbSNP Clinvar 		5903848 5259.94 C G PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.51538 0.51540 0.44795 0.70 0.00 None None None None None None CHGB|0.023575586|72.37%
View snps raw-variants selected 3404_16 20 rs236153
dbSNP Clinvar 		5903894 5325.94 A G PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.51518 0.51520 0.44864 None None None None None None CHGB|0.023575586|72.37%

CHRNA4
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 snps raw-variants selected 3404_16 20 rs1044393
dbSNP Clinvar 		61982124 3845.9 A G PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%
View snps raw-variants selected 3404_16 20 rs1044396
dbSNP Clinvar 		61981134 666.33 G A PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.32348 0.32350 0.40831 None None None None None None CHRNA4|0.164276334|40.99%
View snps raw-variants selected 3404_16 20 rs2229960
dbSNP Clinvar 		61981536 3807.9 A G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.87081 0.87080 0.14286 None None None None None None CHRNA4|0.164276334|40.99%