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+ Genes 269

Genes:
ABHD12, ACOT8, ACSS1, ACSS2, ACTR5, ADA, ADRA1D, ADRM1, ANKRD60, APCDD1L, ARFGEF2, ARFRP1, ARHGAP40, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BANF2, BCAS1, BCAS4, BFSP1, BIRC7, BMP2, BMP7, BPI, BPIFA3, BPIFB1, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf194, C20orf195, C20orf196, C20orf201, C20orf26, C20orf85, C20orf96, CABLES2, CASS4, CBFA2T2, CCM2L, CD93, CDC25B, CDH4, CDK5RAP1, CDS2, CEBPB, CEP250, CHGB, CHRNA4, COL20A1, COL9A3, CRNKL1, CSE1L, CSRP2BP, CST1, CST11, CST3, CST7, CST8, CSTL1, CTCFL, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DIDO1, DNMT3B, DNTTIP1, DUSP15, DYNLRB1, DZANK1, EEF1A2, ELMO2, EMILIN3, ENTPD6, EPPIN, ESF1, EYA2, FAM110A, FAM182B, FAM65C, FAM83C, FASTKD5, FERMT1, FITM2, FLRT3, FOXA2, FRG1B, GATA5, GDF5, GFRA4, GGT7, GINS1, GMEB2, GNAS, GZF1, HCK, HELZ2, HRH3, HSPA12B, IFT52, ITPA, JAG1, JPH2, KCNK15, KCNQ2, KCNS1, KIAA1755, KIF16B, LAMA5, LBP, LIME1, LPIN3, LRRN4, LZTS3, MATN4, MGME1, MMP24, MMP9, MROH8, MTG2, MYBL2, MYH7B, MYT1, NAA20, NCOA3, NCOA5, NCOA6, NECAB3, NELFCD, NFATC2, NINL, NKAIN4, NOP56, NPBWR2, NPEPL1, OCSTAMP, OGFR, OPRL1, OSER1, PANK2, PCED1A, PCK1, PDYN, PIGT, PIGU, PLCB1, PLCB4, PLCG1, POFUT1, POLR3F, PPP4R1L, PREX1, PRND, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTPN1, PTPRA, PTPRT, PXMP4, PYGB, R3HDML, RALGAPA2, RALY, RBBP8NL, RBCK1, REM1, RIN2, RP11-352D3.2, RP11-410N8.4, RP11-429E11.3, RP11-93B14.6, RPN2, RRBP1, RTEL1, RTEL1-TNFRSF6B, SALL4, SAMD10, SCP2D1, SDC4, SDCBP2, SEC23B, SEL1L2, SIGLEC1, SIRPB1, SIRPD, SIRPG, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC52A3, SLC9A8, SLCO4A1, SLX4IP, SMOX, SNTA1, SNX21, SNX5, SOGA1, SPATA2, SPINT4, SPTLC3, SRC, SRMS, SRSF6, SSTR4, STX16, STX16-NPEPL1, SULF2, SUN5, TAF4, TCF15, TGM2, TGM3, TGM6, TLDC2, TMC2, TMEM189-UBE2V1, TMEM239, TNFRSF6B, TNNC2, TP53TG5, TRPC4AP, TSHZ2, TTLL9, TUBB1, UBE2V1, UBOX5, UQCC1, VSX1, WFDC10A, WFDC10B, WFDC3, WFDC6, WFDC9, WISP2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF335, ZNF341, ZNF512B, ZNF831, ZNFX1, ZSWIM3,

+ Genes associated with diseases 60

Genes at Omim

ABHD12, ADA, ARFGEF2, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DDRGK1, DNMT3B, EEF1A2, ELMO2, FERMT1, FLRT3, GATA5, GDF5, GINS1, GNAS, GZF1, IFT52, ITPA, JAG1, JPH2, KCNQ2, MGME1, MMP9, NOP56, PANK2, PCK1, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PROKR2, PRPF6, PTGIS, PTPN1, RBCK1, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC52A3, SNTA1, SRC, 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)
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)
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)
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)
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)
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)
PDYN Spinocerebellar ataxia 23, 610245 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
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 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)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (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, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DNMT3B, EEF1A2, FERMT1, FLRT3, GDF5, GNAS, ITPA, JAG1, JPH2, KCNQ2, MGME1, MMP9, NOP56, PANK2, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PROKR2, PRPF6, RBCK1, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC52A3, SNTA1, SRC, STX16, TGM6, TUBB1, VSX1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ARFGEF2 Heterotopia, periventricular, autosomal recessive
ASXL1 Bohring-Opitz syndrome
BFSP1 Cataract, cortical, juvenile-onset
BMP2 Brachydactyly, type A2
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CTSA Galactosialidosis
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
GDF5 Acromesomelic dysplasia, Hunter-Thompson type
Fibular hypoplasia and complex brachydactyly
Multiple synostoses syndrome 2
Chondrodysplasia, Grebe type
Symphalangism, proximal 1B
Brachydactyly, type A1
Brachydactyly, type A1, C
Brachydactyly, type A2
Brachydactyly, type C
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
ITPA Inosine triphosphatase deficiency
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
MGME1 Mitochondrial DNA depletion syndrome 11
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
PDYN Spinocerebellar ataxia 23
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PLCB4 Auriculocondylar syndrome 2
POFUT1 Dowling-Degos disease 2
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 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
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SNTA1 Long QT syndrome 12
SRC Thrombocytopenia, autosomal dominant, 6
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: 3771
Number of Genes: 269

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 mm171122md 20 rs746748
dbSNP Clinvar 		25282967 409.77 C T . 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.01837 0.01837 0.04267 0.40 0.04 None None None None None None ABHD12|0.092039068|52.8%
View mm171122md 20 rs6107027
dbSNP Clinvar 		25288632 1411.77 G A . 0/1 132 SYNONYMOUS_CODING LOW None 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%
View mm171122md 20 rs10966
dbSNP Clinvar 		25282944 447.77 A G . 0/1 35 SYNONYMOUS_CODING LOW None 0.54153 0.54150 0.44141 None None None None None None ABHD12|0.092039068|52.8%

ACOT8
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 mm171122md 20 rs148674138
dbSNP Clinvar 		44470575 574.77 G A . 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00669 0.05 0.08 None None None None None None SNX21|0.0916542|52.89%,ACOT8|0.073842173|56.55%

ACSS1
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 mm171122md 20 rs66817095
dbSNP Clinvar 		25038484 2149.77 G T . 0/1 153 SYNONYMOUS_CODING LOW None 0.19149 0.19150 0.12341 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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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs189738583
dbSNP Clinvar 		33503026 1115.77 A G . 0/1 81 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ACSS2|0.488270454|16.4%
View mm171122md 20 rs4911163
dbSNP Clinvar 		33470694 1112.77 C T . 1/1 36 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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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs2254105
dbSNP Clinvar 		37377139 191.77 C T . 0/1 12 SYNONYMOUS_CODING LOW None 0.24501 0.24500 None None None None None None ACTR5|0.119979077|47.44%
View mm171122md 20 rs2748663
dbSNP Clinvar 		37383640 734.77 T C . 0/1 82 SYNONYMOUS_CODING LOW None 0.23922 0.23920 0.24673 None None None None None None ACTR5|0.119979077|47.44%
View mm171122md 20 rs2245231
dbSNP Clinvar 		37396120 1542.77 A G . 0/1 108 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs394105
dbSNP Clinvar 		43264927 2955.77 C T . 1/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADRA1D
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 mm171122md 20 rs35105284
dbSNP Clinvar 		4228735 4082.77 C T . 0/1 309 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs2427275
dbSNP Clinvar 		60881780 2418.77 T C . 1/1 73 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%
View mm171122md 20 rs2427273
dbSNP Clinvar 		60881330 4726.77 G A . 1/1 148 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs1192511
dbSNP Clinvar 		56793764 1610.77 G A . 0/1 110 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%
View mm171122md 20 rs1192514
dbSNP Clinvar 		56803353 1182.77 C T . 0/1 105 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.27661 None None None None None None ANKRD60|0.001529196|92.64%
View mm171122md 20 rs584855
dbSNP Clinvar 		56793706 1696.77 G A . 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.21397 0.04 0.93 None None None None None None ANKRD60|0.001529196|92.64%

APCDD1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs1980576
dbSNP Clinvar 		57045667 1703.77 T C . 0/1 131 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%
View mm171122md 20 rs3946003
dbSNP Clinvar 		57045765 1413.77 A G . 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.46086 0.46090 0.40602 1.00 0.00 None None None None None None APCDD1L|0.016982669|75.86%

ARFGEF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs2295580
dbSNP Clinvar 		47626847 1167.77 T C . 0/1 79 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs367993153,rs386394225
dbSNP Clinvar 		62332638 3276.73 A AC . 1/1 87 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 mm171122md 20 rs6070809
dbSNP Clinvar 		37257590 1713.77 C G . 0/1 105 SYNONYMOUS_CODING LOW None 0.36597 None None None None None None ARHGAP40|0.014368541|77.58%

ASXL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs6058694
dbSNP Clinvar 		31022959 1763.77 T C . 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 0.27 0.00 None None None None None None ASXL1|0.399812505|20.78%
View mm171122md 20 rs146464648
dbSNP Clinvar 		31024704 1696.77 G A . 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00146 0.06 0.26 None None None None None None ASXL1|0.399812505|20.78%
View mm171122md 20 rs4911231
dbSNP Clinvar 		31024274 914.77 T C . 0/1 51 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32008 None None None None None None ASXL1|0.399812505|20.78%

ATP9A
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 mm171122md 20 rs2255342
dbSNP Clinvar 		50287790 2614.77 A G . 1/1 76 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%
View mm171122md 20 rs2255341
dbSNP Clinvar 		50287736 1619.77 C T . 0/1 105 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 mm171122md 20 rs2246808
dbSNP Clinvar 		3624830 1588.77 G A . 0/1 157 SYNONYMOUS_CODING LOW None 0.38259 0.38260 0.44987 None None None None None None ATRN|0.348885303|24.22%
View mm171122md 20 rs151519
dbSNP Clinvar 		3515951 957.77 C T . 0/1 61 SYNONYMOUS_CODING LOW None 0.19209 0.19210 0.29148 None None None None None None ATRN|0.348885303|24.22%
View mm171122md 20 rs151518
dbSNP Clinvar 		3515924 738.77 G A . 0/1 52 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.29087 None None None None None None ATRN|0.348885303|24.22%
View mm171122md 20 rs235540
dbSNP Clinvar 		3564672 760.77 C T . 0/1 74 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%

AURKA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs1047972
dbSNP Clinvar 		54961463 637.77 T C . 0/1 35 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 mm171122md 20 rs421801
dbSNP Clinvar 		48257149 1572.77 C T . 0/1 108 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 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 mm171122md 20 rs4814640
dbSNP Clinvar 		17705677 445.77 A G . 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.94329 0.94330 0.06459 0.20 0.00 None None None None None None BANF2|0.055467464|61.07%

BCAS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs35575210
dbSNP Clinvar 		52573971 871.77 T G . 0/1 66 None None None 0.13219 0.13220 0.14224 0.11 0.18 None None None None None None BCAS1|0.015654771|76.67%

BCAS4
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 mm171122md 20 rs7273412
dbSNP Clinvar 		49492562 353.77 G A . 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.02456 0.02456 0.54 0.00 None None None None None None BCAS4|0.010998119|80.07%
View mm171122md 20 rs2272962
dbSNP Clinvar 		49411698 1160.77 G T . 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.15555 0.15560 0.10896 0.31 0.99 None None None None None None BCAS4|0.010998119|80.07%

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 mm171122md 20 rs6136118
dbSNP Clinvar 		17475217 3371.77 C T . 1/1 104 SYNONYMOUS_CODING LOW None 0.33946 0.33950 0.26803 None None None None None None BFSP1|0.019258664|74.54%
View mm171122md 20 rs6080719
dbSNP Clinvar 		17477592 1085.77 C T . 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.26737 0.26740 0.16797 0.85 0.00 None None None None None None BFSP1|0.019258664|74.54%
View mm171122md 20 rs6080718
dbSNP Clinvar 		17474968 3896.77 T C . 1/1 118 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 mm171122md 20 rs6010878
dbSNP Clinvar 		61869607 2067.77 C A . 1/1 63 None None None 0.66414 0.66410 1.00 0.00 None None None None None None BIRC7|0.003576281|87.65%
View mm171122md 20 rs1077019
dbSNP Clinvar 		61870727 4163.77 G C . 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.24661 0.24660 0.19725 0.65 0.00 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 mm171122md 20 rs235768
dbSNP Clinvar 		6759115 634.77 A T . 0/1 50 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%
View mm171122md 20 rs1049007
dbSNP Clinvar 		6751034 1950.77 A G . 0/1 131 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%

BMP7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs6070031
dbSNP Clinvar 		55800937 759.77 C T . 0/1 72 None None None 0.27217 0.27220 None None None None None None BMP7|0.992789544|0.96%
View mm171122md 20 rs2148328
dbSNP Clinvar 		55748206 2193.77 G A . 1/1 65 None None None 0.40755 0.40750 0.41764 0.39 0.00 None None None None None None BMP7|0.992789544|0.96%

BPI
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs1341024
dbSNP Clinvar 		36932676 1215.77 G C . 0/1 125 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.43003 None None None None None None BPI|0.001345673|93.63%
View mm171122md 20 rs5741804
dbSNP Clinvar 		36952342 562.77 C T . 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.14677 0.14680 0.09895 0.08 0.00 None None None None None None BPI|0.001345673|93.63%
View mm171122md 20 rs1341023
dbSNP Clinvar 		36932660 1504.77 C T . 0/1 141 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%

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 mm171122md 20 rs3818222
dbSNP Clinvar 		31812923 1987.77 G A . 1/1 75 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 mm171122md 20 rs1078761
dbSNP Clinvar 		31876681 1254.77 A G . 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.34154 0.09 0.06 None None None None None None BPIFB1|0.002984777|88.67%
View mm171122md 20 rs1999663
dbSNP Clinvar 		31897554 828.77 G C . 0/1 63 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%

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 mm171122md 20 rs4911290
dbSNP Clinvar 		31652292 1050.77 G A . 0/1 81 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%
View mm171122md 20 rs6057717
dbSNP Clinvar 		31656632 1679.77 C G . 0/1 103 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%

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 mm171122md 20 rs11699009
dbSNP Clinvar 		31688241 929.77 T C . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.51578 0.51580 0.36445 1.00 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View mm171122md 20 rs2070326
dbSNP Clinvar 		31678534 709.77 T C . 0/1 60 SYNONYMOUS_CODING LOW None 0.21765 0.21770 0.21975 None None None None None None BPIFB4|0.029100431|69.82%
View mm171122md 20 rs13036385
dbSNP Clinvar 		31671209 918.77 G C . 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.21566 0.21570 0.22713 0.00 0.97 None None None None None None BPIFB4|0.029100431|69.82%
View mm171122md 20 rs4339026
dbSNP Clinvar 		31671599 1596.77 A G . 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.23323 0.23320 0.24007 0.04 0.25 None None None None None None BPIFB4|0.029100431|69.82%
View mm171122md 20 rs2424945
dbSNP Clinvar 		31671663 933.77 T C . 0/1 84 SYNONYMOUS_CODING LOW None 0.37919 0.37920 0.41843 None None None None None None BPIFB4|0.029100431|69.82%
View mm171122md 20 rs2889732
dbSNP Clinvar 		31676804 1661.77 A C . 0/1 124 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 mm171122md 20 rs11696307
dbSNP Clinvar 		31688260 785.77 C T . 0/1 73 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 mm171122md 20 rs2070325
dbSNP Clinvar 		31673846 594.77 A G . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.46546 0.46550 0.32946 0.02 0.42 None None None None None None BPIFB4|0.029100431|69.82%

BPIFB6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs2070317
dbSNP Clinvar 		31622083 191.77 G A . 0/1 46 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%
View mm171122md 20 rs4911287
dbSNP Clinvar 		31627291 428.77 A G . 0/1 28 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%

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 mm171122md 20 rs6062251
dbSNP Clinvar 		61162267 713.77 T C . 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.57668 0.57670 0.36851 1.00 0.00 None None None None None None MIR1-1HG|0.000293671|99.44%
View mm171122md 20 rs6143064
dbSNP Clinvar 		61167883 421.77 G A . 0/1 40 SYNONYMOUS_STOP LOW None 0.26358 0.26360 0.29365 None None None None None None MIR1-1HG|0.000293671|99.44%

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 mm171122md 20 rs2422864
dbSNP Clinvar 		3285140 1280.77 T C . 0/1 81 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%

C20orf195
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs3746348
dbSNP Clinvar 		62187187 3368.77 T C . 1/1 95 SYNONYMOUS_CODING LOW None 0.66314 0.66310 0.46071 None None None None None None C20orf195|0.069407522|57.62%
View mm171122md 20 rs734750
dbSNP Clinvar 		62187439 4429.77 T C . 1/1 138 SYNONYMOUS_CODING LOW None 0.68371 0.68370 0.49354 None None None None None None C20orf195|0.069407522|57.62%

C20orf196
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs237422
dbSNP Clinvar 		5753579 412.77 C T . 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.27295 1.00 0.01 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 mm171122md 20 rs6010717
dbSNP Clinvar 		62714783 4175.77 C G . 1/1 118 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%
View mm171122md 20 rs4431000
dbSNP Clinvar 		62715548 325.77 C A . 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.48463 0.48460 0.33617 0.00 0.97 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs6081901
dbSNP Clinvar 		20144772 2974.77 G A . 1/1 90 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%
View mm171122md 20 rs2424317
dbSNP Clinvar 		20257958 592.77 C T . 0/1 58 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.20560 None None None None None None CFAP61|0.103943105|50.42%
View mm171122md 20 rs200183
dbSNP Clinvar 		20050397 621.77 G A . 0/1 52 None None None 0.78415 0.78410 0.00 None None None None None None CFAP61|0.103943105|50.42%

C20orf85
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 mm171122md 20 rs17440813
dbSNP Clinvar 		56735759 680.77 A G . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.06550 0.06550 0.06789 0.10 0.99 None None None None None None C20orf85|0.014423201|77.54%

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 mm171122md 20 rs6035541
dbSNP Clinvar 		259818 1706.77 G A . 0/1 113 SYNONYMOUS_CODING LOW None 0.29752 0.29750 0.33185 None None None None None None C20orf96|0.00266282|89.34%
View mm171122md 20 rs3827147
dbSNP Clinvar 		256727 1608.77 T A . 1/1 55 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%
View mm171122md 20 rs7271033
dbSNP Clinvar 		259969 4381.77 G C . 1/1 136 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 mm171122md 20 rs2277781
dbSNP Clinvar 		257733 3047.77 A G . 1/1 97 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs184691263
dbSNP Clinvar 		60982118 601.77 G C . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.10423 0.10420 0.08 0.34 None None None None None None CABLES2|0.058513615|60.25%
View mm171122md 20 rs6089219
dbSNP Clinvar 		60966318 2181.77 G T . 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None CABLES2|0.058513615|60.25%
View mm171122md 20 rs13042761
dbSNP Clinvar 		60966374 1095.77 G C . 0/1 64 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.10787 None None None None None None CABLES2|0.058513615|60.25%
View mm171122md 20 rs1570027
dbSNP Clinvar 		60968596 1897.77 A G . 0/1 112 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.22705 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 mm171122md 20 rs35360819
dbSNP Clinvar 		55012461 1564.77 G A . 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00907 0.24 0.00 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 mm171122md 20 rs3803939
dbSNP Clinvar 		32212690 1754.77 C T . 1/1 49 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CCM2L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs139704146,rs78827511
dbSNP Clinvar 		30619042 2481.73 T TGAC . 0/1 171 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None CCM2L|0.097070996|51.71%

CD93
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs3746732
dbSNP Clinvar 		23065342 7585.77 A G . 1/1 232 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 mm171122md 20 rs2228464
dbSNP Clinvar 		3783764 1470.77 C T . 0/1 118 SYNONYMOUS_CODING LOW None 0.02895 0.02895 0.05190 None None None None None None CDC25B|0.242518934|32.24%
View mm171122md 20 rs2228465
dbSNP Clinvar 		3782702 375.77 G A . 0/1 34 SYNONYMOUS_CODING LOW None 0.03335 0.03335 0.03703 None None None None None None CDC25B|0.242518934|32.24%
View mm171122md 20 rs1056720
dbSNP Clinvar 		3784110 1778.77 C T . 0/1 148 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.20498 None None None None None None CDC25B|0.242518934|32.24%

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 mm171122md 20 rs3753045
dbSNP Clinvar 		60509209 787.77 C T . 0/1 52 SYNONYMOUS_CODING LOW None 0.16134 0.16130 0.18714 None None None None None None CDH4|0.197684425|36.97%
View mm171122md 20 rs6142884
dbSNP Clinvar 		60503350 2682.77 A G . 0/1 222 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 mm171122md 20 rs2427240
dbSNP Clinvar 		60485627 1436.77 C T . 1/1 41 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 mm171122md 20 rs291700
dbSNP Clinvar 		31981849 712.77 T C . 0/1 41 SYNONYMOUS_CODING LOW None 0.59565 0.59560 0.36552 None None None None None None CDK5RAP1|0.141646377|44.19%

CDS2
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 mm171122md 20 rs3818196
dbSNP Clinvar 		5166418 1112.77 G A . 0/1 87 SYNONYMOUS_CODING LOW None 0.05012 0.05012 0.02222 None None None None None None CDS2|0.204079622|36.23%

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 mm171122md 20 rs4253439
dbSNP Clinvar 		48808011 2310.77 C T . 0/1 162 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 mm171122md 20 rs367904996
dbSNP Clinvar 		34096785 727.77 G T . 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.00 0.63 None None 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 mm171122md 20 rs236151
dbSNP Clinvar 		5903517 1559.77 A G . 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.20152 0.69 0.00 None None None None None None CHGB|0.023575586|72.37%
View mm171122md 20 rs236153
dbSNP Clinvar 		5903894 1285.77 A G . 0/1 110 SYNONYMOUS_CODING LOW None 0.51518 0.51520 0.44864 None None None None None None CHGB|0.023575586|72.37%