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Genes:
AAR2, ABHD12, ACSS1, ACSS2, ACTR5, ADA, ADNP, ADRM1, ANGPT4, ANKEF1, ANKRD60, APMAP, ARFGAP1, ARFRP1, ASXL1, ATRN, AURKA, B4GALT5, BANF2, BCAS1, BFSP1, BIRC7, BMP2, BMP7, BPI, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf194, C20orf195, C20orf196, C20orf201, C20orf26, C20orf96, CABLES2, CASS4, CBFA2T2, CD93, CDH26, CDH4, CDK5RAP1, CEP250, CHGB, CHRNA4, COL20A1, COL9A3, COX4I2, CRLS1, CRNKL1, CSRP2BP, CST1, CST11, CST3, CST5, CST8, CST9, CST9L, CSTL1, CTCFL, CTSZ, CYP24A1, DBNDD2, DDX27, DEFB125, DEFB126, DEFB127, DEFB129, DIDO1, DNMT3B, DNTTIP1, DUSP15, DYNLRB1, DZANK1, EDEM2, EEF1A2, EFCAB8, ELMO2, ENTPD6, EPPIN, EYA2, FAM110A, FAM182B, FAM209A, FAM209B, FAM210B, FAM65C, FASTKD5, FERMT1, FITM2, FLRT3, FOXA2, FRG1B, GATA5, GCNT7, GDF5, GFRA4, GINS1, GMEB2, GNAS, GPCPD1, GTSF1L, GZF1, HELZ2, HRH3, HSPA12B, IFT52, JAG1, JPH2, KCNG1, KCNK15, KCNQ2, KCNS1, KIAA1755, KIF16B, KIF3B, LAMA5, LAMP5, LBP, LRRN4, LZTS3, MAPRE1, MAVS, MGME1, MKKS, MMP9, MROH8, MYBL2, MYH7B, MYLK2, MYT1, NCOA3, NCOA5, NCOA6, NECAB3, NFATC2, NINL, NKAIN4, NKX2-2, NOP56, NPBWR2, NPEPL1, NSFL1C, NXT1, OCSTAMP, OGFR, PABPC1L, PAK7, PANK2, PCED1A, PCK1, PCMTD2, PDYN, PI3, PIGT, PLCB1, PLCB4, PLCG1, POFUT1, POLR3F, PPP4R1L, PREX1, PRND, PRNP, PRNT, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTPN1, PTPRA, PTPRT, PXMP4, PYGB, RAE1, RALGAPA2, RALY, RBBP8NL, RBCK1, REM1, RIN2, RP11-352D3.2, RP11-410N8.4, RP11-429E11.3, RP4-576H24.4, RPN2, RRBP1, RTEL1, RTEL1-TNFRSF6B, RTFDC1, SALL4, SCP2D1, SDC4, SDCBP2, SEC23B, SEL1L2, SEMG1, SEMG2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SLX4IP, SNAI1, SNAP25, SNPH, SNX21, SOGA1, SOX18, SPINT3, SPO11, SPTLC3, SRC, SRSF6, SSTR4, STK35, STK4, STX16, STX16-NPEPL1, SULF2, SUN5, SYCP2, TAF4, TASP1, TCF15, TFAP2C, TGM3, TGM6, TMC2, TMEM189-UBE2V1, TMEM239, TMX4, TNFRSF6B, TNNC2, TOX2, TP53TG5, TPX2, TRPC4AP, TSHZ2, TTLL9, TTPAL, TUBB1, UBE2V1, UBOX5, UQCC1, VSX1, WFDC10A, WFDC10B, WFDC3, WFDC5, WFDC8, WISP2, XKR7, YTHDF1, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZMYND8, ZNF133, ZNF217, ZNF335, ZNF341, ZNF831, ZNFX1, ZSWIM1, ZSWIM3,

Genes at Omim

ABHD12, ADA, ADNP, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, COX4I2, CST3, CYP24A1, DNMT3B, EEF1A2, ELMO2, FLRT3, GDF5, GNAS, IFT52, JAG1, JPH2, KCNQ2, MGME1, MKKS, MMP9, MYLK2, NOP56, PANK2, PCK1, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, PTGIS, PTPN1, RBCK1, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SNAP25, SOX18, SRC, STK4, STX16, 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)
ADNP Helsmoortel-van der Aa syndrome, 615873 (3)
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
AURKA {Colon cancer, susceptibility to}, 114500 (3)
BFSP1 Cataract 33, 611391 (3)
BMP2 Brachydactyly, type A2, 112600 (3)
{HFE hemochromatosis, modifier of}, 235200 (3)
CHRNA4 Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
{Nicotine addiction, susceptibility to}, 188890 (3)
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
{Intervertebral disc disease, susceptibility to}, 603932 (3)
COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (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)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GDF5 ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)
Brachydactyly, type A1, C, 615072 (3)
Brachydactyly, type A2, 112600 (3)
Brachydactyly, type C, 113100 (3)
Chondrodysplasia, Grebe type, 200700 (3)
Du Pan syndrome, 228900 (3)
Multiple synostoses syndrome 2, 610017 (3)
Symphalangism, proximal, 1B, 615298 (3)
{Osteoarthritis-5}, 612400 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
Acromegaly, somatic, 102200 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
JAG1 ?Deafness, congenital heart defects, and posterior embryotoxon (3)
Alagille syndrome 1, 118450 (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)
MKKS Bardet-Biedl syndrome 6, 605231 (3)
McKusick-Kaufman syndrome, 236700 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
MYLK2 Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PANK2 HARP syndrome, 607236 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680 (1)
PDYN Spinocerebellar ataxia 23, 610245 (3)
PIGT ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
PRNP Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Gerstmann-Straussler disease, 137440 (3)
Huntington disease-like 1, 603218 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
{Kuru, susceptibility to}, 245300 (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)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (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 Duane-radial ray syndrome, 607323 (3)
IVIC syndrome, 147750 (3)
SEC23B Cowden syndrome 7, 616858 (3)
Dyserythropoietic anemia, congenital, type II, 224100 (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)
SNAP25 ?Myasthenic syndrome, congenital, 18, 616330 (3)
SOX18 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3)
SRC ?Thrombocytopenia 6, 616937 (3)
Colon cancer, advanced, somatic, 114500 (3)
STK4 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
TGM6 Spinocerebellar ataxia 35, 613908 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
VSX1 ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
Keratoconus 1, 148300 (3)
ZNF335 ?Microcephaly 10, primary, autosomal recessive, 615095 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ADNP, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, COX4I2, CST3, CYP24A1, DNMT3B, EEF1A2, FERMT1, FLRT3, GDF5, GNAS, JAG1, JPH2, KCNQ2, MGME1, MKKS, MMP9, MYLK2, NOP56, PANK2, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, RBCK1, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SNAP25, SOX18, 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)
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
COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
CST3 Cerebral amyloid angiopathy
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
FERMT1 Kindler syndrome
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GDF5 Brachydactyly, type C
Brachydactyly, type A2
Brachydactyly, type A1, C
Brachydactyly, type A1
Symphalangism, proximal 1B
Chondrodysplasia, Grebe type
Multiple synostoses syndrome 2
Fibular hypoplasia and complex brachydactyly
Acromesomelic dysplasia, Hunter-Thompson type
GNAS McCune-Albright syndrome
Progressive osseous heteroplasia
Pseudohypoparathyroidism, type IC
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IA
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
MGME1 Mitochondrial DNA depletion syndrome 11
MKKS Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
MMP9 Metaphyseal anadysplasia 2
MYLK2 Cardiomyopathy, hypertrophic
NOP56 Spinocerebellar ataxia 36
PANK2 Neurodegeneration with brain iron accumulation 1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
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 Dementia, Lewy body
Insomnia, fatal familial
Creutzfeldt-Jakob disease
Gerstmann-Straussler disease
Huntington disease-like 1
Spongiform encephalopathy with neuropsychiatric features
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
PRPF6 Retinitis pigmentosa 60
RBCK1 Polyglucosan body myopathy 1
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
RTEL1 Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal dominant 4
Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
SALL4 Acro-Renal-Ocular syndrome
Duane-radial ray/Okohiro syndrome
SEC23B Anemia, dyserythropoietic congenital, type II
Cowden syndrome 7
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC4A11 Cryohydrocytosis
SLC52A3 Fazio-Londe disease
Brown-Vialetto-Van Laere syndrome 1
SNAP25 Myasthenic syndrome, congenital 18, with intellectual disability and ataxia
SOX18 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome
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 Corneal dystrophy, posterior polymorphous
Keratoconus 1
Craniofacial anomalies and anterior segment dysgenesis syndrome
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 3478
Number of Genes: 284

Export to: CSV

AAR2

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 mm170241ct 20 rs372602653
dbSNP
34828271 1125.77 G C . 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.32 0.12 None None None None None None None

ABHD12

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 mm170241ct 20 rs6107027
dbSNP
25288632 598.77 G A . 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.33606 0.33610 0.43465 None None None None None None None
View mm170241ct 20 rs10966
dbSNP
25282944 66.77 A G . 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.54153 0.54150 0.44141 None None None None None None None

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 mm170241ct 20 rs6050259
dbSNP
25011423 930.77 T C . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.22264 0.22260 0.30540 None None None None None None None
View mm170241ct 20 rs6115001
dbSNP
24994275 116.77 G A . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.07568 0.07568 0.10403 None None None None None None None
View mm170241ct 20 rs6115003
dbSNP
25000734 795.77 G A . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.10903 0.10900 0.13609 None None None None None None None

ACSS2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs10485507
dbSNP
33508826 570.77 A G . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.09704 0.09704 0.08981 None None None None None None None

ACTR5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs2748663
dbSNP
37383640 1815.77 T C . 0/1 157 SYNONYMOUS_CODING LOW SILENT 0.23922 0.23920 0.24673 None None None None None None None
View mm170241ct 20 rs2245231
dbSNP
37396120 1336.77 A G . 0/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43331 0.43330 0.44157 0.40 0.00 None None None None None None None

ADA

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs394105
dbSNP
43264927 844.77 C T . 1/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.98223 0.98220 0.01538 None None None None None None None

ADNP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs17790938
dbSNP
49509184 2158.77 G A . 0/1 148 SYNONYMOUS_CODING LOW SILENT 0.10443 0.10440 0.09488 None None None None None None None

ADRM1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs2427273
dbSNP
60881330 511.77 G A . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.81789 0.81790 0.16377 None None None None None None None
View mm170241ct 20 rs2427275
dbSNP
60881780 872.77 T C . 1/1 26 SYNONYMOUS_CODING LOW SILENT 0.96286 0.96290 0.03147 None None None None None None None

ANGPT4

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs944110
dbSNP
854940 524.77 T C . 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.51298 0.51300 0.39090 None None None None None None None

ANKEF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs575534
dbSNP
10019093 8278.77 A G . 1/1 239 SYNONYMOUS_CODING LOW SILENT 0.56550 0.56550 0.35514 None None None None None None None
View mm170241ct 20 rs524625
dbSNP
10030452 1353.77 G A . 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19569 0.19570 0.26000 0.46 1.00 None None None None None None None
View mm170241ct 20 rs683145
dbSNP
10032413 4249.77 T G . 1/1 128 SYNONYMOUS_CODING LOW SILENT 0.20068 0.20070 0.27733 None None None None None None None
View mm170241ct 20 rs652633
dbSNP
10030188 3461.77 T A . 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19768 0.19770 0.27257 0.30 0.01 None None None None None None None

ANKRD60

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 mm170241ct 20 rs1192511
dbSNP
56793764 926.77 G A . 1/1 30 SYNONYMOUS_CODING LOW SILENT 0.67672 0.67670 0.21397 None None None None None None None
View mm170241ct 20 rs584855
dbSNP
56793706 1411.77 G A . 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67652 0.67650 0.21397 0.04 0.39 None None None None None None None
View mm170241ct 20 rs1192514
dbSNP
56803353 488.77 C T . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.32728 0.32730 0.27661 None None None None None None None

APMAP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs11550623
dbSNP
24973247 221.77 C A . 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.06689 0.06689 0.08469 None None None None None None None

ARFGAP1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs78818145
dbSNP
61917425 937.77 G A . 0/1 59 None None None 0.04153 0.04153 0.01 0.00 None None None None None None None
View mm170241ct 20 rs147166637
dbSNP
61910318 1054.77 C T . 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00023 0.41 0.10 None None None None None None None
View mm170241ct 20 rs11542296
dbSNP
61907982 359.77 C T . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.03834 0.03834 0.04721 None None None None None None None

ARFRP1

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 mm170241ct 20 rs367993153,rs386394225
dbSNP
62332638 1010.73 A AC . 1/1 31 None None None 0.73642 0.73640 0.16151 None None None None None None None

ASXL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs6058694
dbSNP
31022959 1658.77 T C . 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00008 0.28 0.00 None None None None None None None
View mm170241ct 20 rs150391716
dbSNP
31024028 1355.77 G A . 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.00260 0.00260 0.00784 None None None None None None None

ATRN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs2246808
dbSNP
3624830 3915.77 G A . 1/1 114 SYNONYMOUS_CODING LOW SILENT 0.38259 0.38260 0.44987 None None None None None None None
View mm170241ct 20 rs235540
dbSNP
3564672 671.77 C T . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.82448 0.82450 0.26895 None None None None None None None

AURKA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs1047972
dbSNP
54961463 946.77 T C . 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84984 0.84980 0.16223 1.00 0.00 None None None None None None None

B4GALT5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs421801
dbSNP
48257149 7518.77 C T . 1/1 230 SYNONYMOUS_CODING LOW SILENT 0.81010 0.81010 0.18976 None None None None None None None
View mm170241ct 20 rs2235855
dbSNP
48259034 654.77 A G . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.44669 0.44670 0.47709 None None None None None None None

BANF2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs4814640
dbSNP
17705677 348.77 A G . 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94329 0.94330 0.06459 0.20 0.00 None None None None None None None

BCAS1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs394732
dbSNP
52675188 436.77 G T . 0/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.57608 0.57610 0.46033 1.00 0.00 None None None None None None None
View mm170241ct 20 rs35575210
dbSNP
52573971 1608.77 T G . 0/1 139 None None None 0.13219 0.13220 0.14224 0.11 0.05 None None None None None None None

BFSP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs6080717
dbSNP
17474791 1998.77 G A . 0/1 134 SYNONYMOUS_CODING LOW SILENT 0.20587 0.20590 0.27649 None None None None None None None
View mm170241ct 20 rs6080719
dbSNP
17477592 217.77 C T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26737 0.26740 0.16797 0.85 0.02 None None None None None None None
View mm170241ct 20 rs6136118
dbSNP
17475217 861.77 C T . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.33946 0.33950 0.26803 None None None None None None None
View mm170241ct 20 rs6080718
dbSNP
17474968 1673.77 T C . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.00300 0.00300 0.25988 None None None None None None None

BIRC7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs1077019
dbSNP
61870727 398.77 G C . 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24661 0.24660 0.19725 0.65 0.00 None None None None None None None
View mm170241ct 20 rs6010878
dbSNP
61869607 324.78 C A . 1/1 11 None None None 0.66414 0.66410 1.00 0.00 None None None None None None None

BMP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs235768
dbSNP
6759115 2062.77 A T . 0/1 155 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76677 0.76680 0.27069 0.00 0.98 None None None None None None None
View mm170241ct 20 rs1049007
dbSNP
6751034 1006.77 A G . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.74601 0.74600 0.29174 None None None None None None None

BMP7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs41274738
dbSNP
55803299 138.77 C T . 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.01737 0.01737 0.02876 None None None None None None None

BPI

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs1341023
dbSNP
36932660 404.77 C T . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43131 0.43130 0.42742 0.01 0.27 None None None None None None None
View mm170241ct 20 rs4358188
dbSNP
36946848 2558.77 G A . 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43510 0.43510 0.49531 1.00 0.00 None None None None None None None
View mm170241ct 20 rs1341024
dbSNP
36932676 254.77 G C . 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.43470 0.43470 0.43003 None None None None None None None

BPIFA3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs3818222
dbSNP
31812923 253.77 G A . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66434 0.66430 0.41673 1.00 0.00 None None None None None None None

BPIFB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs1999663
dbSNP
31897554 1701.77 G C . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67532 0.67530 0.43219 0.61 0.00 None None None None None None None

BPIFB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs17124003
dbSNP
31609581 709.77 C T . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.32029 0.32030 0.33777 None None None None None None None

BPIFB3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs378098
dbSNP
31660543 901.77 C T . 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13399 0.13400 0.17923 0.00 1.00 None None None None None None None
View mm170241ct 20 rs2093066
dbSNP
31652596 373.77 C T . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11542 0.11540 0.16523 0.03 0.00 None None None None None None None

BPIFB4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs11699009
dbSNP
31688241 319.77 T C . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51578 0.51580 0.36445 1.00 0.00 None None None None None None None
View mm170241ct 20 rs2070326
dbSNP
31678534 220.77 T C . 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.21765 0.21770 0.21975 None None None None None None None
View mm170241ct 20 rs2424945
dbSNP
31671663 226.8 T C . 1/1 9 SYNONYMOUS_CODING LOW SILENT 0.37919 0.37920 0.41843 None None None None None None None
View mm170241ct 20 rs4339026
dbSNP
31671599 533.77 A G . 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23323 0.23320 0.24007 0.04 0.35 None None None None None None None
View mm170241ct 20 rs13036385
dbSNP
31671209 2076.77 G C . 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21566 0.21570 0.22713 0.00 0.76 None None None None None None None
View mm170241ct 20 rs11696307
dbSNP
31688260 307.77 C T . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47264 0.47260 0.40797 0.17 0.00 None None None None None None None

BPIFB6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs2070317
dbSNP
31622083 228.77 G A . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56909 0.56910 0.48831 1.00 0.00 None None None None None None None
View mm170241ct 20 rs4911287
dbSNP
31627291 205.77 A G . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60643 0.60640 0.48470 1.00 0.00 None None None None None None None

C20orf166

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs6143064
dbSNP
61167883 194.77 G A . 0/1 14 SYNONYMOUS_STOP LOW SILENT 0.26358 0.26360 0.29365 None None None None None None None
View mm170241ct 20 rs6062251
dbSNP
61162267 82.77 T C . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57668 0.57670 0.36851 1.00 0.00 None None None None None None None

C20orf194

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs2254916
dbSNP
3285126 1947.77 A T . 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.25539 0.25540 0.23607 None None None None None None None
View mm170241ct 20 rs2422864
dbSNP
3285140 3820.77 T C . 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93371 0.93370 0.12173 1.00 0.00 None None None None None None None
View mm170241ct 20 rs41281886
dbSNP
3278682 3045.77 G A . 0/1 153 SYNONYMOUS_CODING LOW SILENT 0.01358 0.01358 0.01635 None None None None None None None

C20orf195

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs734750
dbSNP
62187439 532.77 T C . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.68371 0.68370 0.49354 None None None None None None None
View mm170241ct 20 rs3746348
dbSNP
62187187 773.77 T C . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.66314 0.66310 0.46071 None None None None None None None

C20orf196

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs237422
dbSNP
5753579 342.77 C T . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23403 0.23400 0.27295 1.00 0.01 None None None None None None None

C20orf201

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs6010717
dbSNP
62714783 1121.77 C G . 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.62460 0.62460 0.37159 None None None None None None None
View mm170241ct 20 rs4431000
dbSNP
62715548 90.28 C A . 1/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48463 0.48460 0.33617 0.00 1.00 None None None None None None None

C20orf26

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs200183
dbSNP
20050397 4790.77 G A . 1/1 146 None None None 0.78415 0.78410 0.00 None None None None None None None
View mm170241ct 20 rs2424317
dbSNP
20257958 312.77 C T . 0/1 14 SYNONYMOUS_CODING LOW SILENT 0.13399 0.13400 0.20560 None None None None None None None
View mm170241ct 20 rs6081901
dbSNP
20144772 734.77 G A . 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45887 0.45890 0.44403 0.37 0.00 None None None None None None None

C20orf96

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs2277781
dbSNP
257733 821.77 A G . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.64717 0.64720 0.32424 None None None None None None None
View mm170241ct 20 rs3827147
dbSNP
256727 158.77 T A . 0/1 19 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None None

CABLES2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs1570027
dbSNP
60968596 769.77 A G . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.20248 0.20250 0.22705 None None None None None None None
View mm170241ct 20 rs6089219
dbSNP
60966318 994.77 G T . 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None None

CASS4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs3746626
dbSNP
55033713 980.77 G A . 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.52556 0.52560 0.36025 None None None None None None None
View mm170241ct 20 rs2870738
dbSNP
55028167 7482.77 G A . 1/1 211 SYNONYMOUS_CODING LOW SILENT 0.37740 0.37740 0.26576 None None None None None None None
View mm170241ct 20 rs3746623
dbSNP
55033476 2950.77 C G . 1/1 88 SYNONYMOUS_CODING LOW SILENT 0.52596 0.52600 0.36191 None None None None None None None
View mm170241ct 20 rs3746624
dbSNP
55033635 1295.77 C T . 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.36861 0.36860 0.26019 None None None None None None None
View mm170241ct 20 rs3746625
dbSNP
55033647 1318.77 T C . 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.52576 0.52580 0.36160 None None None None None None None

CBFA2T2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs3803939
dbSNP
32212690 1171.77 C T . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.66913 0.66910 0.41796 None None None None None None None

CD93

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs3746732
dbSNP
23065342 1685.77 A G . 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.77975 0.77980 0.24642 None None None None None None None
View mm170241ct 20 rs3746731
dbSNP
23065209 1396.77 G A . 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54113 0.54110 0.49908 0.17 0.23 None None None None None None None

CDH26

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs6015609
dbSNP
58558015 1177.77 T C . 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05431 0.05431 0.05259 0.12 0.68 None None None None None None None
View mm170241ct 20 rs194998
dbSNP
58571064 481.77 G T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03235 0.03235 0.03944 0.83 0.00 None None None None None None None
View mm170241ct 20 rs6015610
dbSNP
58558073 903.77 C T . 0/1 88 SYNONYMOUS_CODING LOW SILENT 0.07768 0.07768 0.07627 None None None None None None None
View mm170241ct 20 rs370682137
dbSNP
58587783 74.73 T TA . 0/1 21 None None None 0.03255 0.03255 None None None None None None None

CDH4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs3753045
dbSNP
60509209 238.77 C T . 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.16134 0.16130 0.18714 None None None None None None None
View mm170241ct 20 rs2427240
dbSNP
60485627 553.77 C T . 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.70487 0.70490 0.17000 None None None None None None None
View mm170241ct 20 rs6142884
dbSNP
60503350 1130.77 A G . 0/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56729 0.56730 0.44802 1.00 0.00 None None None None None None None

CDK5RAP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs291700
dbSNP
31981849 2031.77 T C . 0/1 183 SYNONYMOUS_CODING LOW SILENT 0.59565 0.59560 0.36552 None None None None None None None

CEP250

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs145916875
dbSNP
34079058 63.77 G T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00108 0.86 None None None None None None None

CHGB

Omim - GeneCards - NCBI
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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 mm170241ct 20 rs236153
dbSNP
5903894 1293.77 A G . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.51518 0.51520 0.44864 None None None None None None None
View mm170241ct 20 rs236152
dbSNP
5903848 1079.77 C G . 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51538 0.51540 0.44795 0.70 0.26 None None None None None None None
View mm170241ct 20 rs236151
dbSNP
5903517 1366.77 A G . 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86861 0.86860 0.20152 0.69 0.00 None None None None None None None
View mm170241ct 20 rs6085324
dbSNP
5903067 1619.77 T A . 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23263 0.23260 0.21644 0.40 0.01 None None None None None None None
View mm170241ct 20 rs742711
dbSNP
5904040 1422.77 G A . 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23123 0.23120 0.21513 0.86 0.02 None None None None None None None