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Genes:
ABHD12, ABHD16B, ACSS1, ACSS2, ACTR5, ADA, ADAM33, ADNP, ADRM1, ANGPT4, ANKEF1, AP5S1, ARFGEF2, ARFRP1, ARHGAP40, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BANF2, BCAS1, BFSP1, BIRC7, BMP2, BPI, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf173, C20orf194, C20orf26, C20orf96, CABLES2, CASS4, CBFA2T2, CD93, CDH4, CDK5RAP1, CEP250, CHD6, CHGB, CHRNA4, CNBD2, COL20A1, COL9A3, CPNE1, CRNKL1, CSRP2BP, CST1, CST3, CST8, CST9, CSTL1, CTCFL, CTSA, CTSZ, CYP24A1, DBNDD2, DEFB125, DEFB126, DEFB128, DEFB132, DIDO1, DNMT3B, DUSP15, DZANK1, EDEM2, ELMO2, ENTPD6, ESF1, EYA2, FAM110A, FAM209B, FAM210B, FAM65C, FAM83C, FAM83D, FERMT1, FITM2, FLRT3, FOXA2, GATA5, GDF5, GFRA4, GGT7, GGTLC1, GMEB2, GPCPD1, GZF1, HCK, HELZ2, HRH3, HSPA12B, ID1, IFT52, JAG1, JPH2, KCNG1, KCNK15, KCNS1, KIAA1755, KIF16B, LAMA5, LAMP5, LBP, LPIN3, LZTS3, MACROD2, MAPRE1, MATN4, MAVS, MC3R, MGME1, MKKS, MMP9, MROH8, MYBL2, MYH7B, MYT1, NAA20, NCOA3, NCOA5, NCOA6, NELFCD, NFATC2, NINL, NOP56, NPEPL1, NSFL1C, NTSR1, OPRL1, PAK7, PANK2, PCED1A, PCK1, PCMTD2, PI3, PIGT, PLCB1, PLCB4, PLCG1, PMEPA1, POFUT1, POLR3F, PPP1R16B, PREX1, PRND, PRNP, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTPRA, PTPRT, PXMP4, PYGB, R3HDML, RAD21L1, RALGAPA2, RBBP8NL, RBM12, RBPJL, REM1, RIN2, RPN2, RPRD1B, RRBP1, RSPO4, RTEL1, RTFDC1, SALL4, SAMD10, SDC4, SDCBP2, SEL1L2, SEMG1, SEMG2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SMOX, SNAI1, SNPH, SNX21, SOGA1, SPAG4, SPINT3, SPINT4, SPTLC3, SRC, SRSF6, SSTR4, STK4, STX16, SULF2, SUN5, SYCP2, SYNDIG1, TAF4, TCEA2, TCF15, TCFL5, TGM2, TGM3, TGM6, TMC2, TMEM189-UBE2V1, TMEM230, TMX4, TNFRSF6B, TP53TG5, TPX2, TRIB3, TRPC4AP, TSHZ2, TTI1, TUBB1, UBOX5, UQCC1, VSX1, WFDC10B, WFDC3, WFDC8, WFDC9, WISP2, XKR7, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF334, ZNF335, ZNF341, ZNF512B, ZNF831, ZNFX1, ZSWIM1, ZSWIM3,

Genes at Omim

ABHD12, ADA, ADNP, ARFGEF2, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DNMT3B, ELMO2, FERMT1, FLRT3, GATA5, GDF5, GZF1, IFT52, JAG1, JPH2, MC3R, MGME1, MKKS, MMP9, NOP56, PANK2, PCK1, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, PTGIS, RBM12, RIN2, RSPO4, RTEL1, SALL4, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SRC, STK4, STX16, SUN5, TGM3, TGM6, TUBB1, VSX1, 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)
ADNP Helsmoortel-van der Aa syndrome, 615873 (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)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FERMT1 Kindler syndrome, 173650 (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)
GZF1 Joint laxity, short stature, and myopia, 617662 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (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)
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)
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)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
PTGIS Hypertension, essential, 145500 (3)
RBM12 {Schizophrenia 19, susceptibility to}, 617629 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (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)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ADNP, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DNMT3B, FERMT1, FLRT3, GDF5, JAG1, JPH2, MGME1, MKKS, MMP9, NOP56, PANK2, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, RIN2, 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
ADNP Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28)
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
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
FERMT1 Kindler syndrome
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
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
MGME1 Mitochondrial DNA depletion syndrome 11
MKKS McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
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
PRPF6 Retinitis pigmentosa 60
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
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: 596
Number of Genes: 261

Export to: CSV

ABHD12

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 cds 3405_16 20 rs10966
dbSNP Clinvar
25282944 1858.0 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.54153 0.54150 0.44141 None None None None None None ABHD12|0.092039068|52.8%

ABHD16B

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 cds 3405_16 20 rs6011194
dbSNP Clinvar
62493384 148.0 C T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.00778 0.44 0.02 None None None None None None ABHD16B|0.036737167|66.9%

ACSS1

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 cds 3405_16 20 rs6115001
dbSNP Clinvar
24994275 518.0 G A PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.07568 0.07568 0.10403 None None None None None None ACSS1|0.048821607|63.01%
View cds 3405_16 20 rs6115003
dbSNP Clinvar
25000734 378.0 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.10903 0.10900 0.13609 None None None None None None ACSS1|0.048821607|63.01%
View cds 3405_16 20 rs6050259
dbSNP Clinvar
25011423 1411.0 T C PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.30540 None None None None None None ACSS1|0.048821607|63.01%
View cds 3405_16 20 rs6050249
dbSNP Clinvar
24994289 637.0 C T PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.16394 0.16390 0.22605 0.10 0.08 None None None None None None ACSS1|0.048821607|63.01%

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 cds 3405_16 20 rs4911163
dbSNP Clinvar
33470694 1119.0 C T PASS 0/1 66 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
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 20 rs111586858
dbSNP Clinvar
37396114 504.0 A G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.01158 0.01158 0.01784 0.59 0.22 None None None None None None ACTR5|0.119979077|47.44%
View cds 3405_16 20 rs2245231
dbSNP Clinvar
37396120 1500.0 A G PASS 0/1 91 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%

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 cds 3405_16 20 rs244076
dbSNP Clinvar
43252915 352.0 T C PASS 0/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26578 0.26580 0.24858 None None None None None None ADA|0.574821556|12.82%
View cds 3405_16 20 rs394105
dbSNP Clinvar
43264927 1784.0 C T PASS 1/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%
View cds 3405_16 20 rs11555566
dbSNP Clinvar
43255220 364.0 T C PASS 0/1 60 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%

ADAM33

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 cds 3405_16 20 rs528557
dbSNP Clinvar
3651742 1585.0 C G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.38778 0.38780 0.38944 None None None None None None ADAM33|0.021575059|73.4%

ADNP

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 cds 3405_16 20 rs1062651
dbSNP Clinvar
49508683 3070.0 G A PASS 0/1 207 SYNONYMOUS_CODING LOW None 0.11022 0.11020 0.10311 None None None None None None ADNP|0.657974321|9.79%

ADRM1

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 cds 3405_16 20 rs2427273
dbSNP Clinvar
60881330 1413.0 G A PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%
View cds 3405_16 20 rs2427275
dbSNP Clinvar
60881780 1510.0 T C PASS 1/1 40 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
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 20 rs944110
dbSNP Clinvar
854940 792.0 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 cds 3405_16 20 rs575534
dbSNP Clinvar
10019093 2266.0 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.35514 None None None None None None ANKEF1|0.06517726|58.59%

AP5S1

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 cds 3405_16 20 rs749473569
dbSNP Clinvar
3802853 431.0 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.99 None None None None None None AP5S1|0.055748055|60.99%

ARFGEF2

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 cds 3405_16 20 rs2281582
dbSNP Clinvar
47630449 456.0 C T PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.20847 0.20850 0.11303 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 cds 3405_16 20 rs1048665
dbSNP Clinvar
62331989 524.0 T G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.17546 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 cds 3405_16 20 rs6070809
dbSNP Clinvar
37257590 345.0 C G PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.36597 None None None None None None ARHGAP40|0.014368541|77.58%
View cds 3405_16 20 rs141476666
dbSNP Clinvar
37267979 275.0 C T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.00110 0.00 1.00 None None None None None None ARHGAP40|0.014368541|77.58%
View cds 3405_16 20 rs201229120
dbSNP Clinvar
37258198 351.0 A G PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00241 0.13 0.01 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 cds 3405_16 20 rs4911231
dbSNP Clinvar
31024274 1419.0 T C PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32008 None None None None None None ASXL1|0.399812505|20.78%
View cds 3405_16 20 rs62206933
dbSNP Clinvar
31023500 463.0 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.04014 0.04014 0.01822 None None None None None None ASXL1|0.399812505|20.78%
View cds 3405_16 20 rs6058694
dbSNP Clinvar
31022959 3070.0 T C PASS 1/1 79 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 cds 3405_16 20 rs2255342
dbSNP Clinvar
50287790 3070.0 A G PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%
View cds 3405_16 20 rs2255341
dbSNP Clinvar
50287736 2301.0 C T PASS 1/1 69 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 cds 3405_16 20 rs235540
dbSNP Clinvar
3564672 1574.0 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%
View cds 3405_16 20 rs6107308
dbSNP Clinvar
3528101 364.0 A C PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.05791 0.05791 0.05398 0.20 0.01 None None None None None None ATRN|0.348885303|24.22%
View cds 3405_16 20 rs151519
dbSNP Clinvar
3515951 337.0 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.19209 0.19210 0.29148 None None None None None None ATRN|0.348885303|24.22%
View cds 3405_16 20 rs151518
dbSNP Clinvar
3515924 297.0 G A PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.29087 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 cds 3405_16 20 rs1047972
dbSNP Clinvar
54961463 2993.0 T C PASS 1/1 65 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%

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 cds 3405_16 20 rs421801
dbSNP Clinvar
48257149 3070.0 C T PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%
View cds 3405_16 20 rs2235855
dbSNP Clinvar
48259034 1645.0 A G PASS 0/1 92 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 cds 3405_16 20 rs4814640
dbSNP Clinvar
17705677 3070.0 A G PASS 1/1 84 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%
View cds 3405_16 20 rs1053993
dbSNP Clinvar
17716416 350.0 C G PASS 0/1 51 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%

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 cds 3405_16 20 rs35575210
dbSNP Clinvar
52573971 414.0 T G PASS 0/1 72 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 cds 3405_16 20 rs158551
dbSNP Clinvar
52645166 470.0 A G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.12840 0.12840 0.04559 1.00 0.00 None None None None None None BCAS1|0.015654771|76.67%
View cds 3405_16 20 rs394732
dbSNP Clinvar
52675188 777.0 G T PASS 1/1 24 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%

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 cds 3405_16 20 rs6080718
dbSNP Clinvar
17474968 2787.0 T C PASS 1/1 54 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 cds 3405_16 20 rs2273487
dbSNP Clinvar
61869826 1103.0 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.44489 0.44490 0.43433 None None None None None None BIRC7|0.003576281|87.65%
View cds 3405_16 20 rs41282996
dbSNP Clinvar
61867626 788.0 C T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.02196 0.02196 0.02424 0.00 0.90 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 cds 3405_16 20 rs235768
dbSNP Clinvar
6759115 2973.0 A T PASS 0/1 96 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%

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 cds 3405_16 20 rs1341023
dbSNP Clinvar
36932660 200.0 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.43131 0.43130 0.42742 0.01 0.10 None None None None None None BPI|0.001345673|93.63%
View cds 3405_16 20 rs5741809
dbSNP Clinvar
36956026 478.0 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 cds 3405_16 20 rs4358188
dbSNP Clinvar
36946848 1165.0 G A PASS 0/1 45 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%
View cds 3405_16 20 rs5743509
dbSNP Clinvar
36940314 154.0 C T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.04313 0.20 0.03 None None None None None None BPI|0.001345673|93.63%
View cds 3405_16 20 rs1341024
dbSNP Clinvar
36932676 295.0 G C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.43003 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 cds 3405_16 20 rs3818222
dbSNP Clinvar
31812923 619.0 G A PASS 0/1 43 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 cds 3405_16 20 rs1999663
dbSNP Clinvar
31897554 1075.0 G C PASS 1/1 17 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 cds 3405_16 20 rs17124003
dbSNP Clinvar
31609581 1276.0 C T PASS 1/1 41 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 cds 3405_16 20 rs6057717
dbSNP Clinvar
31656632 1108.0 C G PASS 1/1 17 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 cds 3405_16 20 rs4911290
dbSNP Clinvar
31652292 1568.0 G A PASS 1/1 28 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 cds 3405_16 20 rs11696307
dbSNP Clinvar
31688260 561.0 C T PASS 0/1 33 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 cds 3405_16 20 rs2070325
dbSNP Clinvar
31673846 978.0 A G PASS 1/1 27 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%
View cds 3405_16 20 rs2889732
dbSNP Clinvar
31676804 971.0 A C PASS 1/1 30 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 cds 3405_16 20 rs11699009
dbSNP Clinvar
31688241 630.0 T C PASS 0/1 36 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%

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 cds 3405_16 20 rs4911287
dbSNP Clinvar
31627291 2945.0 A G PASS 1/1 72 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 cds 3405_16 20 rs2070317
dbSNP Clinvar
31622083 1603.0 G A PASS 1/1 34 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 cds 3405_16 20 rs6062251
dbSNP Clinvar
61162267 1050.0 T C PASS 1/1 18 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%

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 cds 3405_16 20 rs7261862
dbSNP Clinvar
34116282 902.0 T C PASS 0/1 81 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 cds 3405_16 20 rs2422864
dbSNP Clinvar
3285140 1968.0 T C PASS 1/1 31 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 cds 3405_16 20 rs2254916
dbSNP Clinvar
3285126 1289.0 A T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.23607 None None None None None None C20orf194|0.217196802|34.71%

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 cds 3405_16 20 rs2424317
dbSNP Clinvar
20257958 369.0 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.20560 None None None None None None CFAP61|0.103943105|50.42%
View cds 3405_16 20 rs6081901
dbSNP Clinvar
20144772 436.0 G A PASS 0/1 52 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 cds 3405_16 20 rs2277781
dbSNP Clinvar
257733 602.0 A G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%
View cds 3405_16 20 rs7271033
dbSNP Clinvar
259969 301.0 G C PASS 0/1 17 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 cds 3405_16 20 rs3827147
dbSNP Clinvar
256727 703.0 T A PASS 0/1 63 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 cds 3405_16 20 rs1570027
dbSNP Clinvar
60968596 1244.0 A G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.22705 None None None None None None CABLES2|0.058513615|60.25%
View cds 3405_16 20 rs146975578
dbSNP Clinvar
60982024 51.0 C T PASS 0/1 3 SYNONYMOUS_CODING LOW None 0.12720 0.12720 0.15849 None None None None None None CABLES2|0.058513615|60.25%
View cds 3405_16 20 rs6089219
dbSNP Clinvar
60966318 1978.0 G T PASS 1/1 44 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%

CASS4

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 cds 3405_16 20 rs3746623
dbSNP Clinvar
55033476 331.0 C G PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.36191 None None None None None None CASS4|0.007706606|82.84%
View cds 3405_16 20 rs3746626
dbSNP Clinvar
55033713 344.0 G A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.52556 0.52560 0.36025 None None None None None None CASS4|0.007706606|82.84%
View cds 3405_16 20 rs34899200
dbSNP Clinvar
55027509 361.0 C T PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.01877 0.01877 0.01899 0.05 0.03 None None None None None None CASS4|0.007706606|82.84%
View cds 3405_16 20 rs35031530
dbSNP Clinvar
55033420 229.0 C T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.14677 0.14680 0.08665 0.24 0.01 None None None None None None CASS4|0.007706606|82.84%
View cds 3405_16 20 rs3746625
dbSNP Clinvar
55033647 417.0 T C PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.52576 0.52580 0.36160 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 cds 3405_16 20 rs3803939
dbSNP Clinvar
32212690 1772.0 C T PASS 1/1 98 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 cds 3405_16 20 rs3746732
dbSNP Clinvar
23065342 1875.0 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.77975 0.77980 0.24642 None None None None None None CD93|0.003918213|87.15%
View cds 3405_16 20 rs3746731
dbSNP Clinvar
23065209 945.0 G A PASS 0/1 42 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
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 20 rs34912551
dbSNP Clinvar
60419750 419.0 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.01498 0.01498 0.03498 None None None None None None CDH4|0.197684425|36.97%
View cds 3405_16 20 rs6142884
dbSNP Clinvar
60503350 2219.0 A G PASS 1/1 62 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 cds 3405_16 20 rs2427240
dbSNP Clinvar
60485627 1610.0 C T PASS 1/1 20 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 cds 3405_16 20 rs291700
dbSNP Clinvar
31981849 1253.0 T C PASS 0/1 34 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
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 20 rs3748433
dbSNP Clinvar
34090519 1129.0 G A PASS 0/1 101 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%

CHD6

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 cds 3405_16 20 rs3746543
dbSNP Clinvar
40034097 786.0 A G PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.17272 0.17270 0.07535 None None None None None None CHD6|0.425022636|19.36%
View cds 3405_16 20 rs2235589
dbSNP Clinvar
40043913 1060.0 C T PASS 0/1 65 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
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 20 rs236153
dbSNP Clinvar
5903894 1075.0 A G PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.51518 0.51520 0.44864 None None None None None None CHGB|0.023575586|72.37%
View cds 3405_16 20 rs910122
dbSNP Clinvar
5903323 521.0 G A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.41653 0.41650 0.35007 0.33 0.00 None None None None None None CHGB|0.023575586|72.37%
View cds 3405_16 20 rs881118
dbSNP Clinvar
5903388 549.0 A C PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.16434 0.16430 0.09388 0.07 0.05 None None None None None None CHGB|0.023575586|72.37%
View cds 3405_16 20 rs236152
dbSNP Clinvar
5903848 1097.0 C G PASS 0/1 73 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 cds 3405_16 20 rs742710
dbSNP Clinvar
5904028 445.0 C T PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.17492 0.17490 0.10511 0.30 0.00 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 cds 3405_16 20 rs1044394
dbSNP Clinvar
61982085 1702.0 A G PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.15670 None None None None None None CHRNA4|0.164276334|40.99%
View cds 3405_16 20 rs2229960
dbSNP Clinvar
61981536 993.0 A G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.87081 0.87080 0.14286 None None None None None None CHRNA4|0.164276334|40.99%
View cds 3405_16 20 rs1044393
dbSNP Clinvar
61982124 741.0 A G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%
View cds 3405_16 20 rs2229959
dbSNP Clinvar
61981554 360.0 C A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.73383 0.73380 0.24861 None None None None None None CHRNA4|0.164276334|40.99%

CNBD2

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 cds 3405_16 20 rs6060750
dbSNP Clinvar
34596371 990.0 C T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.30990 0.30990 0.23635 0.08 0.09 None None None None None None CNBD2|0.015554621|76.76%

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 cds 3405_16 20 rs4809287
dbSNP Clinvar
61941747 1794.0 A G PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.95347 0.95350 0.04211 None None None None None None COL20A1|0.010214941|80.7%
View cds 3405_16 20 rs753686
dbSNP Clinvar
61937296 218.0 C T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.14137 0.14140 0.14383 0.17 0.00 None None None None None None COL20A1|0.010214941|80.7%