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+ Genes 250

Genes:
ABHD12, ACSS2, ADA, ADRA1D, ADRM1, ANKRD60, ARFGEF2, ARFRP1, ARHGAP40, ASXL1, ATP9A, ATRN, B4GALT5, BCAS1, BCAS4, BFSP1, BIRC7, BMP2, BMP7, BPI, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf141, C20orf194, C20orf195, C20orf196, C20orf201, C20orf26, C20orf62, C20orf96, CABLES2, CASS4, CBFA2T2, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CEBPB, CEP250, CHGB, CHRNA4, COL20A1, COL9A3, CRNKL1, CSE1L, CSRP2BP, CST1, CST3, CST4, CST5, CST8, CST9, CSTL1, CTCFL, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB125, DEFB126, DEFB128, DEFB132, DIDO1, DNMT3B, DNTTIP1, DUSP15, DYNLRB1, DZANK1, EBF4, EEF1A2, EFCAB8, ELMO2, ENTPD6, EPPIN, ESF1, FAM110A, FAM182B, FAM209B, FAM65C, FAM83D, FASTKD5, FERMT1, FITM2, FLRT3, FOXA2, FRG1B, GCNT7, GFRA4, GINS1, GMEB2, GNAS, GZF1, HELZ2, HNF4A, HRH3, IFT52, ITPA, JAG1, JPH2, KCNG1, KCNQ2, KCNS1, KIF16B, LAMA5, LBP, LPIN3, LZTS3, MACROD2, MAPRE1, MATN4, MAVS, MGME1, MMP9, MROH8, MTG2, MYBL2, MYH7B, NCOA5, NCOA6, NELFCD, NKAIN4, NOP56, NPBWR2, NPEPL1, OCSTAMP, OGFR, PAK7, PANK2, PCK1, PHACTR3, PIGT, PLCB1, PLCB4, PLCG1, PMEPA1, POFUT1, PPP1R16B, PPP4R1L, PREX1, PRND, PRNP, PRNT, PROKR2, PSMA7, PSMF1, PTGIS, PTPRA, PTPRT, PXMP4, PYGB, R3HDML, RAD21L1, RBBP8NL, RBCK1, RBM12, RP11-352D3.2, RP11-429E11.3, RPN2, RPS21, RRBP1, RTEL1, RTEL1-TNFRSF6B, RTFDC1, SALL4, SAMD10, SCP2D1, SDCBP2, SEC23B, SEL1L2, SIGLEC1, SIRPB1, SIRPB2, SIRPD, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A10, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SMOX, SNPH, SNX21, SOGA1, SPATA2, SPINT3, SPINT4, SPTLC3, SRC, SRMS, SRSF6, SS18L1, SSTR4, STK4, STX16, SUN5, TAF4, TCF15, TCFL5, TGM3, TGM6, TLDC2, TMC2, TMEM189-UBE2V1, TMEM239, TMX4, TNFRSF6B, TNNC2, TOX2, TP53RK, TP53TG5, TPX2, TRIB3, TRPC4AP, TSHZ2, TTLL9, TUBB1, UBE2V1, UBOX5, UQCC1, WFDC10B, WFDC3, WFDC8, WFDC9, YTHDF1, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZMYND8, ZNF133, ZNF335, ZNF341, ZNF512B, ZNF831, ZNFX1, ZSWIM3,

+ Genes associated with diseases 57

Genes at Omim

ABHD12, ADA, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CYP24A1, DDRGK1, DNMT3B, EEF1A2, ELMO2, FERMT1, FLRT3, GINS1, GNAS, GZF1, HNF4A, IFT52, ITPA, JAG1, JPH2, KCNQ2, MGME1, MMP9, NOP56, PANK2, PCK1, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PTGIS, RBCK1, RBM12, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC2A10, SLC4A11, SLC52A3, SRC, STK4, STX16, SUN5, TGM3, TGM6, TP53RK, TUBB1, ZNF335, ZNF341,
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)
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)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FERMT1 Kindler syndrome, 173650 (3)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GINS1 Immunodeficiency 55, 617827 (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)
HNF4A Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)
MODY, type I, 125850 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (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)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PANK2 HARP syndrome, 607236 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (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)
PTGIS Hypertension, essential, 145500 (3)
RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
RBM12 {Schizophrenia 19, susceptibility to}, 617629 (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)
SEC23B Dyserythropoietic anemia, congenital, type II, 224100 (3)
?Cowden syndrome 7, 616858 (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)
SLC2A10 Arterial tortuosity syndrome, 208050 (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)
TP53RK Galloway-Mowat syndrome 4, 617730 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CYP24A1, DNMT3B, EEF1A2, FERMT1, FLRT3, GNAS, HNF4A, ITPA, JAG1, JPH2, KCNQ2, MGME1, MMP9, NOP56, PANK2, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, RBCK1, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC2A10, SLC4A11, SLC52A3, SRC, STK4, STX16, TGM6, TUBB1, 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
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
EEF1A2 Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
FERMT1 Kindler syndrome
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
HNF4A Congenital hyperinsulinism, diazoxide-responsive
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity onset diabetes of the young, 1
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
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
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
RBCK1 Polyglucosan body myopathy 1
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
SEC23B Cowden syndrome 7
Anemia, dyserythropoietic congenital, type II
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC2A10 Arterial tortuosity syndrome
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
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 1439
Number of Genes: 250

Export to: CSV

ABHD12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb346 vep 20 rs6107027
dbSNP Clinvar 		25288632 3481.77 G A . 1/1 112 SYNONYMOUS_CODING LOW None 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%

ACSS2
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 pdb346 vep 20 rs4911163
dbSNP Clinvar 		33470694 712.77 C T . 0/1 45 SYNONYMOUS_CODING LOW None 0.51218 0.51220 0.43434 None None None None None None ACSS2|0.488270454|16.4%

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 pdb346 vep 20 rs394105
dbSNP Clinvar 		43264927 1587.77 C T . 1/1 53 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%
View pdb346 vep 20 rs61737144
dbSNP Clinvar 		43254298 339.77 C T . 0/1 30 SYNONYMOUS_CODING LOW None 0.03055 0.03055 0.04228 None None None None None None ADA|0.574821556|12.82%
View pdb346 vep 20 rs244076
dbSNP Clinvar 		43252915 251.77 T C . 0/1 23 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26578 0.26580 0.24858 None None None None None None ADA|0.574821556|12.82%

ADRA1D
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 pdb346 vep 20 rs35105284
dbSNP Clinvar 		4228735 604.77 C T . 0/1 55 SYNONYMOUS_CODING LOW None 0.20487 0.20490 0.22072 None None None None None None ADRA1D|0.152836614|42.55%

ADRM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 pdb346 vep 20 rs2427275
dbSNP Clinvar 		60881780 1322.77 T C . 1/1 40 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%
View pdb346 vep 20 rs2427273
dbSNP Clinvar 		60881330 3057.77 G A . 1/1 98 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%

ANKRD60
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 pdb346 vep 20 rs584855
dbSNP Clinvar 		56793706 3001.77 G A . 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.21397 0.04 0.93 2.77 None None None None None None ANKRD60|0.001529196|92.64%
View pdb346 vep 20 rs1192511
dbSNP Clinvar 		56793764 2113.77 G A . 1/1 66 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%
View pdb346 vep 20 rs1192514
dbSNP Clinvar 		56803353 227.77 C T . 0/1 40 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.27661 None None None None None None ANKRD60|0.001529196|92.64%

ARFGEF2
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 pdb346 vep 20 rs149172723
dbSNP Clinvar 		47570296 311.77 C T . 0/1 20 SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00308 None None None None None None ARFGEF2|0.303924468|27.35%
View pdb346 vep 20 rs2295580
dbSNP Clinvar 		47626847 1195.77 T C . 1/1 36 SYNONYMOUS_CODING LOW None 0.35423 0.35420 0.40389 None None None None None None ARFGEF2|0.303924468|27.35%

ARFRP1
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 pdb346 vep 20 rs367993153,rs386394225
dbSNP Clinvar 		62332638 1955.73 A AC . 1/1 56 None None None 0.73642 0.73640 0.16151 None None None None None None ARFRP1|0.101604996|50.84%

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 pdb346 vep 20 rs6070809
dbSNP Clinvar 		37257590 869.77 C G . 0/1 73 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
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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 pdb346 vep 20 rs4911231
dbSNP Clinvar 		31024274 1053.77 T C . 1/1 29 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32008 None None None None None None ASXL1|0.399812505|20.78%
View pdb346 vep 20 rs6058694
dbSNP Clinvar 		31022959 1339.77 T C . 1/1 39 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%

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 pdb346 vep 20 rs2255342
dbSNP Clinvar 		50287790 2026.77 A G . 1/1 61 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%
View pdb346 vep 20 rs138665384
dbSNP Clinvar 		50235243 764.77 G C . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00031 0.08 0.45 4.00 0.07 0.70139 D None None None None ATP9A|0.17091233|40.18%
View pdb346 vep 20 rs2255341
dbSNP Clinvar 		50287736 2862.77 C T . 1/1 92 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.46555 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 pdb346 vep 20 rs2246808
dbSNP Clinvar 		3624830 626.77 G A . 0/1 78 SYNONYMOUS_CODING LOW None 0.38259 0.38260 0.44987 None None None None None None ATRN|0.348885303|24.22%
View pdb346 vep 20 rs151519
dbSNP Clinvar 		3515951 539.77 C T . 0/1 65 SYNONYMOUS_CODING LOW None 0.19209 0.19210 0.29148 None None None None None None ATRN|0.348885303|24.22%
View pdb346 vep 20 rs235540
dbSNP Clinvar 		3564672 224.77 C T . 0/1 35 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%
View pdb346 vep 20 rs34398666
dbSNP Clinvar 		3624848 1242.77 C T . 0/1 75 SYNONYMOUS_CODING LOW None 0.05571 0.05571 0.10841 None None None None None None ATRN|0.348885303|24.22%
View pdb346 vep 20 rs151518
dbSNP Clinvar 		3515924 358.77 G A . 0/1 60 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.29087 None None None None None None ATRN|0.348885303|24.22%

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 pdb346 vep 20 rs421801
dbSNP Clinvar 		48257149 2074.77 C T . 1/1 67 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%
View pdb346 vep 20 rs2235855
dbSNP Clinvar 		48259034 1626.77 A G . 1/1 45 SYNONYMOUS_CODING LOW None 0.44669 0.44670 0.47709 None None None None None None B4GALT5|0.192081933|37.58%

BCAS1
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 pdb346 vep 20 rs394732
dbSNP Clinvar 		52675188 883.77 G T . 1/1 28 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.57608 0.57610 0.46033 1.00 0.00 -1.76 None None None None None None BCAS1|0.015654771|76.67%

BCAS4
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 pdb346 vep 20 rs2272962
dbSNP Clinvar 		49411698 186.77 G T . 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.15555 0.15560 0.10896 0.31 0.99 1.52 None None None None None None BCAS4|0.010998119|80.07%

BFSP1
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 pdb346 vep 20 rs6136118
dbSNP Clinvar 		17475217 640.77 C T . 0/1 57 SYNONYMOUS_CODING LOW None 0.33946 0.33950 0.26803 None None None None None None BFSP1|0.019258664|74.54%
View pdb346 vep 20 rs6080718
dbSNP Clinvar 		17474968 1773.77 T C . 1/1 54 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%
View pdb346 vep 20 rs6080719
dbSNP Clinvar 		17477592 236.77 C T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.26737 0.26740 0.16797 0.85 0.00 -0.86 None None None None None None BFSP1|0.019258664|74.54%

BIRC7
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 pdb346 vep 20 rs6010878
dbSNP Clinvar 		61869607 190.77 C A . 0/1 19 None None None 0.66414 0.66410 1.00 0.00 0.03 None None None None None None BIRC7|0.003576281|87.65%
View pdb346 vep 20 rs2273487
dbSNP Clinvar 		61869826 957.77 C T . 0/1 80 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb346 vep 20 rs1049007
dbSNP Clinvar 		6751034 2760.77 A G . 1/1 83 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%
View pdb346 vep 20 rs235768
dbSNP Clinvar 		6759115 1669.77 A T . 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.76677 0.76680 0.27069 0.00 0.87 5.07 None None None None None None BMP2|0.997316737|0.64%

BMP7
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 pdb346 vep 20 rs6070031
dbSNP Clinvar 		55800937 1613.77 C T . 1/1 49 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb346 vep 20 rs1341024
dbSNP Clinvar 		36932676 1250.77 G C . 1/1 41 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.43003 None None None None None None BPI|0.001345673|93.63%
View pdb346 vep 20 rs1341023
dbSNP Clinvar 		36932660 1462.77 C T . 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.43131 0.43130 0.42742 0.01 0.10 2.78 None None None None None None BPI|0.001345673|93.63%
View pdb346 vep 20 rs10446011
dbSNP Clinvar 		36919758 1029.77 A G . 1/1 33 None None None 0.17851 0.17850 None None None None None None BPI|0.001345673|93.63%

BPIFA3
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 pdb346 vep 20 rs3818222
dbSNP Clinvar 		31812923 785.77 G A . 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41673 1.00 0.00 -1.11 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 pdb346 vep 20 rs1078761
dbSNP Clinvar 		31876681 943.77 A G . 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.34154 0.09 0.06 -1.14 None None None None None None BPIFB1|0.002984777|88.67%
View pdb346 vep 20 rs1999663
dbSNP Clinvar 		31897554 790.77 G C . 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.67532 0.67530 0.43219 0.61 0.00 -1.89 None None None None None None BPIFB1|0.002984777|88.67%

BPIFB2
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 pdb346 vep 20 rs17124003
dbSNP Clinvar 		31609581 1772.77 C T . 1/1 53 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 pdb346 vep 20 rs4911290
dbSNP Clinvar 		31652292 1739.77 G A . 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.49002 0.49000 0.35276 0.02 0.18 2.23 None None None None None None BPIFB3|0.02436257|72.06%
View pdb346 vep 20 rs6057717
dbSNP Clinvar 		31656632 2154.77 C G . 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.48203 0.48200 0.34069 0.17 0.11 0.89 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 pdb346 vep 20 rs2889732
dbSNP Clinvar 		31676804 2350.77 A C . 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.55152 0.55150 0.42134 0.04 0.68 3.87 None None None None None None BPIFB4|0.029100431|69.82%
View pdb346 vep 20 rs2070325
dbSNP Clinvar 		31673846 804.77 A G . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.46546 0.46550 0.32946 0.02 0.42 2.44 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 pdb346 vep 20 rs2070317
dbSNP Clinvar 		31622083 1368.77 G A . 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.56909 0.56910 0.48831 1.00 0.00 1.68 None None None None None None BPIFB6|0.017668453|75.5%

C20orf141
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 pdb346 vep 20 rs12625619
dbSNP Clinvar 		2796007 917.77 G A . 0/1 66 SYNONYMOUS_CODING LOW None 0.14617 0.14620 0.14024 None None None None None None TMEM239|0.034807661|67.52%,C20orf141|0.004243166|86.69%

C20orf194
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 pdb346 vep 20 rs2422864
dbSNP Clinvar 		3285140 2371.77 T C . 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.93371 0.93370 0.12173 1.00 0.00 1.61 None None None None None None C20orf194|0.217196802|34.71%

C20orf195
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 pdb346 vep 20 rs734750
dbSNP Clinvar 		62187439 860.77 T C . 0/1 57 SYNONYMOUS_CODING LOW None 0.68371 0.68370 0.49354 None None None None None None C20orf195|0.069407522|57.62%
View pdb346 vep 20 rs3746348
dbSNP Clinvar 		62187187 269.77 T C . 0/1 26 SYNONYMOUS_CODING LOW None 0.66314 0.66310 0.46071 None None None None None None C20orf195|0.069407522|57.62%

C20orf196
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb346 vep 20 rs1699233
dbSNP Clinvar 		5843812 207.77 T C . 0/1 28 SYNONYMOUS_CODING LOW None 0.43311 0.43310 0.48716 None None None None None None C20orf196|0.008754295|81.9%
View pdb346 vep 20 rs237422
dbSNP Clinvar 		5753579 508.77 C T . 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.27295 1.00 0.01 -1.14 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 pdb346 vep 20 rs6010717
dbSNP Clinvar 		62714783 776.77 C G . 0/1 69 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
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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 pdb346 vep 20 rs56102210
dbSNP Clinvar 		20232356 719.77 C T . 0/1 46 SYNONYMOUS_CODING LOW None 0.06689 0.06689 0.09411 None None None None None None CFAP61|0.103943105|50.42%
View pdb346 vep 20 rs6081901
dbSNP Clinvar 		20144772 1741.77 G A . 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.44403 0.37 0.00 -0.72 None None None None None None CFAP61|0.103943105|50.42%
View pdb346 vep 20 rs200183
dbSNP Clinvar 		20050397 582.77 G A . 0/1 51 None None None 0.78415 0.78410 0.00 None None None None None None CFAP61|0.103943105|50.42%
View pdb346 vep 20 rs6075630
dbSNP Clinvar 		20150027 2053.77 C T . 1/1 65 SYNONYMOUS_CODING LOW None 0.13978 0.13980 0.19714 None None None None None None CFAP61|0.103943105|50.42%

C20orf62
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 pdb346 vep 20 rs150454505
dbSNP Clinvar 		43093859 503.77 C A . 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.07 0.65 0.23 0.05 0.63192 D None None None None C20orf62|0.001440136|93.1%

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 pdb346 vep 20 rs2277781
dbSNP Clinvar 		257733 1144.77 A G . 0/1 83 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%

CABLES2
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 pdb346 vep 20 rs6089219
dbSNP Clinvar 		60966318 857.77 G T . 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 1.45 None None None None None None CABLES2|0.058513615|60.25%
View pdb346 vep 20 rs146975578
dbSNP Clinvar 		60982024 116.77 C T . 0/1 10 SYNONYMOUS_CODING LOW None 0.12720 0.12720 0.15849 None None None None None None CABLES2|0.058513615|60.25%
View pdb346 vep 20 rs13042761
dbSNP Clinvar 		60966374 325.77 G C . 0/1 27 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.10787 None None None None None None CABLES2|0.058513615|60.25%

CASS4
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 pdb346 vep 20 rs3746625
dbSNP Clinvar 		55033647 211.77 T C . 0/1 35 SYNONYMOUS_CODING LOW None 0.52576 0.52580 0.36160 None None None None None None CASS4|0.007706606|82.84%
View pdb346 vep 20 rs3746626
dbSNP Clinvar 		55033713 315.77 G A . 0/1 33 SYNONYMOUS_CODING LOW None 0.52556 0.52560 0.36025 None None None None None None CASS4|0.007706606|82.84%
View pdb346 vep 20 rs3746623
dbSNP Clinvar 		55033476 915.77 C G . 0/1 91 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.36191 None None None None None None CASS4|0.007706606|82.84%
View pdb346 vep 20 rs2870738
dbSNP Clinvar 		55028167 751.77 G A . 0/1 52 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.26576 None None None None None None CASS4|0.007706606|82.84%
View pdb346 vep 20 rs3746624
dbSNP Clinvar 		55033635 315.77 C T . 0/1 39 SYNONYMOUS_CODING LOW None 0.36861 0.36860 0.26019 None None None None None None CASS4|0.007706606|82.84%

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 pdb346 vep 20 rs3803939
dbSNP Clinvar 		32212690 495.77 C T . 0/1 34 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

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 pdb346 vep 20 rs3746731
dbSNP Clinvar 		23065209 1728.77 G A . 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.54113 0.54110 0.49908 0.17 0.09 0.75 None None None None None None CD93|0.003918213|87.15%
View pdb346 vep 20 rs3746732
dbSNP Clinvar 		23065342 2220.77 A G . 0/1 117 SYNONYMOUS_CODING LOW None 0.77975 0.77980 0.24642 None None None None None None CD93|0.003918213|87.15%

CDC25B
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 pdb346 vep 20 rs1056720
dbSNP Clinvar 		3784110 1094.77 C T . 0/1 94 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.20498 None None None None None None CDC25B|0.242518934|32.24%

CDH22
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 pdb346 vep 20 rs200454892
dbSNP Clinvar 		44839056 479.77 G A . 0/1 28 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00574 None None None None None None CDH22|0.178666963|39.18%

CDH26
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 pdb346 vep 20 rs142853823
dbSNP Clinvar 		58567499 662.77 C T . 0/1 51 SYNONYMOUS_CODING LOW None 0.00023 None None None None None None CDH26|0.000365756|99.16%

CDH4
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 pdb346 vep 20 rs6142884
dbSNP Clinvar 		60503350 1618.77 A G . 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.56729 0.56730 0.44802 1.00 0.00 -1.69 None None None None None None CDH4|0.197684425|36.97%
View pdb346 vep 20 rs2427240
dbSNP Clinvar 		60485627 661.77 C T . 1/1 21 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb346 vep 20 rs291700
dbSNP Clinvar 		31981849 1813.77 T C . 1/1 60 SYNONYMOUS_CODING LOW None 0.59565 0.59560 0.36552 None None None None None None CDK5RAP1|0.141646377|44.19%

CEBPB
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 pdb346 vep 20 rs4253439
dbSNP Clinvar 		48808011 754.77 C T . 0/1 48 SYNONYMOUS_CODING LOW None 0.36981 0.36980 0.33705 None None None None None None CEBPB|0.637441971|10.54%

CEP250
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 pdb346 vep 20 rs780242737
dbSNP Clinvar 		34053922 889.77 G A . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.16 2.26 0.01 0.2126 T None None None None CEP250|0.102943293|50.61%

CHGB
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 pdb346 vep 20 rs236151
dbSNP Clinvar 		5903517 688.77 A G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.20152 0.69 0.00 -1.13 None None None None None None CHGB|0.023575586|72.37%

CHRNA4
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 pdb346 vep 20 rs1044394
dbSNP Clinvar 		61982085 2945.77 A G . 1/1 86 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.15670 None None None None None None CHRNA4|0.164276334|40.99%
View pdb346 vep 20 rs1044393
dbSNP Clinvar 		61982124 3733.77 A G . 1/1 117 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%
View pdb346 vep 20 rs2229959
dbSNP Clinvar 		61981554 2089.77 C A . 1/1 66 SYNONYMOUS_CODING LOW None 0.73383 0.73380 0.24861 None None None None None None CHRNA4|0.164276334|40.99%
View pdb346 vep 20 rs2229960
dbSNP Clinvar 		61981536 1684.77 A G . 1/1 54 SYNONYMOUS_CODING LOW None 0.87081 0.87080 0.14286 None None None None None None CHRNA4|0.164276334|40.99%
View pdb346 vep 20 rs1044396
dbSNP Clinvar 		61981134 1118.77 G A . 0/1 79 SYNONYMOUS_CODING LOW None 0.32348 0.32350 0.40831 None None None None None None CHRNA4|0.164276334|40.99%
View pdb346 vep 20 rs1044397
dbSNP Clinvar 		61981104 1078.77 C T . 0/1 98 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.40943 None None None None None None CHRNA4|0.164276334|40.99%

COL20A1
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 pdb346 vep 20 rs4809287
dbSNP Clinvar 		61941747 1287.77 A G . 1/1 43 SYNONYMOUS_CODING LOW None 0.95347 0.95350 0.04211 None None None None None None COL20A1|0.010214941|80.7%

COL9A3
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 pdb346 vep 20 rs150148851
dbSNP Clinvar 		61455823 893.77 C T . 0/1 65 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.00988 None None None None None None COL9A3|0.05194578|62.08%
View pdb346 vep 20 rs2294995
dbSNP Clinvar 		61468571 968.77 T C . 1/1 29 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.23560 None None None None None None COL9A3|0.05194578|62.08%
View pdb346 vep 20 rs1048100
dbSNP Clinvar 		61472073 337.77 C A . 0/1 65 SYNONYMOUS_CODING LOW None 0.16913 0.16910 0.15464 None None None None None None COL9A3|0.05194578|62.08%

CRNKL1
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 pdb346 vep 20 rs2273058
dbSNP Clinvar 		20033319 214.77 A G . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.51997 0.52000 0.46189 0.85 0.00 -0.82 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View pdb346 vep 20 rs3817995
dbSNP Clinvar 		20033380 154.77 A G . 0/1 32 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.45473 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View pdb346 vep 20 rs2255258
dbSNP Clinvar 		20033137 1605.77 T A . 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.70088 0.70090 0.40904 0.78 0.00 -1.18 None None None None None None CRNKL1|0.403355497|20.56%
View pdb346 vep 20 rs2273057
dbSNP Clinvar 		20033242 581.77 A T . 0/1 41 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.46378 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View pdb346 vep 20 rs2255255
dbSNP Clinvar 		20032998 349.77 T C . 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.51897 0.51900 0.46371 0.16 0.00 -0.21 None None None None None None CRNKL1|0.403355497|20.56%
View pdb346 vep 20 rs7508949
dbSNP Clinvar 		20033367 204.77 C G . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.24241 0.24240 0.32629 0.00 -1.08 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%

CSE1L
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 pdb346 vep 20 rs2227946
dbSNP Clinvar 		47685320 2326.77 G C . 1/1 64 SYNONYMOUS_CODING LOW None 0.14896 0.14900 0.23612 None None None None None None CSE1L|0.815579241|5.45%

CSRP2BP
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 pdb346 vep 20 rs2747404
dbSNP Clinvar 		18167977 799.77 T C . 0/1 54 SYNONYMOUS_CODING LOW None 0.99101 0.99100 0.01576 None None None None None None CSRP2BP|0.117112066|47.93%