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Genes:
AASDH, ABLIM2, AC021860.1, AC068620.1, AC079341.1, AC093677.1, ACOX3, ACSL1, ADAMTS3, ADH1B, ADH1C, ADH4, ADH6, ADRA2C, AFAP1, AFM, AFP, AGA, AGPAT9, ALB, ALPK1, AMBN, AMTN, ANAPC4, ANK2, ANKRD17, ANKRD37, ANTXR2, ANXA10, ARAP2, ARHGAP24, ARHGEF38, ART3, ASB5, ASIC5, ATP10D, ATP8A1, BANK1, BBS12, BMP3, BOD1L1, BTC, C4orf17, C4orf19, C4orf21, C4orf22, C4orf26, C4orf27, C4orf3, C4orf32, C4orf33, C4orf36, C4orf40, C4orf45, C4orf48, C4orf50, CABS1, CBR4, CCDC109B, CCDC110, CCDC96, CCNA2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP44, CFI, CHRNA9, CLCN3, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COQ2, CORIN, CPEB2, CPZ, CRIPAK, CRMP1, CSN3, CXCL1, CXCL5, CYP4V2, DAPP1, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDX60L, DGKQ, DOK7, DRD5, DTHD1, EGF, ELF2, ENPEP, ENPP6, EPHA5, EREG, ERVMER34-1, ETFDH, EVC, EVC2, EXOC1, EXOSC9, FABP2, FAM114A1, FAM149A, FAM175A, FAM184B, FAM198B, FAM200B, FAM53A, FAT1, FAT4, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FRAS1, FREM3, FRG1, FRG2, FRYL, FSTL5, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GBA3, GC, GLRA3, GLRB, GNRHR, GPR125, GPR78, GRIA2, GRID2, GRK4, GRSF1, GRXCR1, GSX2, GUCY1A3, GUCY1B3, GUF1, GYPA, GYPB, GYPE, HADH, HELQ, HERC5, HERC6, HGFAC, HMX1, HOPX, HPSE, HSD17B11, HSPA4L, HTT, IBSP, IDUA, IL2, IL21, ING2, INPP4B, INTU, IRF2, KCTD8, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KLB, KLHL2, KLHL5, KLKB1, LAP3, LARP1B, LDB2, LETM1, LGI2, LIMCH1, LIN54, LINC00955, LPHN3, LRBA, LRIT3, LRP2BP, LYAR, MAEA, MAML3, MAN2B2, MANBA, MAP9, MARCH1, MED28, MFSD10, MFSD8, MND1, MSANTD1, MTHFD2L, MTTP, MUC7, NAF1, NAP1L5, NCAPG, NDNF, NDST3, NDST4, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NIPAL1, NKX1-1, NKX3-2, NMU, NOA1, NOP14, NPNT, NPY2R, NPY5R, NR3C2, NSUN7, NUDT6, NUP54, ODAM, OTOP1, PALLD, PAPSS1, PARM1, PCDH10, PCDH7, PDE5A, PDE6B, PDGFC, PDGFRA, PDLIM5, PF4V1, PHOX2B, PI4K2B, PKD2, PLA2G12A, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPEF2, PPID, PPP2R2C, PRDM5, PRDM8, PRIMPOL, PROL1, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, QDPR, QRFPR, RAPGEF2, RASSF6, RBM47, RBPJ, RFC1, RGS12, RNF175, RNF212, RP11-171N4.2, RP11-503N18.3, RP11-62N21.1, RP11-763F8.1, RP11-766F14.2, RPL9, S100P, SCLT1, SDAD1, SEC24B, SEC24D, SEC31A, SEL1L3, SETD7, SFRP2, SH3BP2, SH3TC1, SHROOM3, SLC25A31, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SLC7A11, SLC9B1, SLIT2, SMARCA5, SMARCAD1, SMR3A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPON2, SRP72, STAP1, STIM2, STOX2, STPG2, SYNPO2, TACC3, TBC1D1, TBC1D14, TBC1D19, TBCK, TENM3, TET2, THAP9, THEGL, TIFA, TIGD2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMEM128, TMEM129, TMEM155, TMEM156, TMEM165, TMEM175, TMPRSS11A, TMPRSS11B, TMPRSS11E, TNIP2, TRIM2, TRIML1, TRIML2, TRMT44, TTC29, UBA6, UGT2A1, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, USP53, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WHSC1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF732,

Genes at Omim

ADH1B, ADH1C, ADRA2C, AFP, AGA, ALB, AMBN, ANK2, ANTXR2, BBS12, C4orf26, CENPE, CFI, CNGA1, COL25A1, COQ2, CORIN, CYP4V2, DOK7, DRD5, EGF, ETFDH, EVC, FAT4, FGFR3, FRAS1, GABRA2, GLRB, GNRHR, GRID2, GRXCR1, GUCY1A3, GUF1, GYPA, GYPB, HMX1, HTT, IDUA, IL2, IL21, KDR, KLKB1, LRBA, LRIT3, MANBA, MFSD8, MUC7, NEK1, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PKD2, PLK4, PRDM5, PRDM8, PRSS12, QDPR, RBPJ, RNF212, SEC24D, SH3BP2, SLC2A9, SLC34A2, SLC4A4, SMARCAD1, SOD3, SRP72, TBCK, TENM3, TET2, TLL1, TLR1, TLR2, TLR3, TMEM165, TRIM2, UGT2B17, UVSSA, VEGFC, WDR19, WFS1, ZNF141,
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Alcohol dependence, protection against}, 103780 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
ADRA2C {Congestive heart failure and beta-blocker response, modifier of} (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
C4orf26 Amelogenesis imperfecta, type IIA4, 614832 (3)
CENPE ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CFI Complement factor I deficiency, 610984 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
CNGA1 Retinitis pigmentosa 49, 613756 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 Dystonia, primary cervical (3)
{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
Weyers acrodental dysostosis, 193530 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome, 219000 (3)
GABRA2 {Alcohol dependence, susceptibility to}, 103780 (3)
GLRB Hyperekplexia 2, autosomal recessive, 614619 (3)
GNRHR Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYPA [Blood group, MN] (3)
{Malaria, resistance to}, 611162 (3)
GYPB [Blood group, Ss] (3)
{Malaria, resistance to}, 611162 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HTT Huntington disease, 143100 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL2 Severe combined immunodeficiency due to IL2 deficiency (1)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
KDR Hemangioma, capillary infantile, somatic, 602089 (3)
{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
MANBA Mannosidosis, beta, 248510 (3)
MFSD8 Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Macular dystrophy with central cone involvement, 616170 (3)
MUC7 {Asthma, protection against}, 600807 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PKD2 Polycystic kidney disease 2, 613095 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SH3BP2 Cherubism, 118400 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
SRP72 Bone marrow failure syndrome 1, 614675 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR2 {Colorectal cancer, susceptibility to}, 114500 (3)
{Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Herpes simplex encephalitis, susceptibility to, 2} 613002 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VEGFC Lymphedema, hereditary, ID, 615907 (3)
WDR19 ?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Nephronophthisis 13, 614377 (3)
Senior-Loken syndrome 8, 616307 (3)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ADRA2C, AFP, AGA, ALB, AMBN, ANK2, ANTXR2, BBS12, CENPE, CFI, CNGA1, COL25A1, COQ2, CORIN, CYP4V2, DOK7, EGF, ETFDH, EVC, EVC2, FAT4, FGFR3, FRAS1, GLRB, GNRHR, GRID2, GRXCR1, GUCY1A3, GYPA, GYPB, HADH, HMX1, HTT, IDUA, IL21, KLKB1, LRBA, LRIT3, MANBA, MFSD8, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, ODAM, PDE6B, PDGFRA, PHOX2B, PKD2, PLK4, PRDM5, PRDM8, PRIMPOL, PRSS12, QDPR, RBPJ, SH3BP2, SLC2A9, SLC34A2, SLC4A4, SMARCAD1, SRP72, TENM3, TLL1, TLR3, TMEM165, TRIM2, UVSSA, VEGFC, WDR19, WFS1, ZNF141,
ADRA2C Beta-blocker response, association with
AFP Hereditary persistence of AFP
AFP deficiency, congenital
AGA Aspartylglucosaminuria
ALB Analbuminemia
Dysalbuminemic hyperthyroxinemia
AMBN Amelogenesis imperfecta type IF
ANK2 Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome, 4
ANTXR2 Fibromatosis, juveline hyaline
Hyalinosis, infantile systemic
BBS12 Bardet-Biedl syndrome 12
CENPE Microcephaly 13, primary, autosomal recessive
CFI Complement factor I deficiency
Hemolytic uremic syndrome, atypical
CNGA1 Retinitis pigmentosa 49
COL25A1 Fibrosis of extraocular muscles, congenital 5
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Retinitis pigmentosa, autosomal recessive
Bietti crystalline corneoretinal dystrophy
DOK7 Myasthenic syndrome, congenital 10
EGF Hypomagnesemia 4, renal
ETFDH Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
EVC Weyers acrofacial dysostosis
Ellis-van Creveld syndrome
EVC2 Weyers acrodental dysostosis
Ellis-van Creveld syndrome
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GNRHR Hypogonadotropic hypogonadism 23 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRXCR1 Deafness, autosomal recessive 25
GUCY1A3 Moyamoya disease 6 with achalasia
GYPA Blood group, Erik
Blood group, MN locus
GYPB Blood group, Ss
HADH Hyperinsulinemic hypoglycemia, familial, 4
3-hydroxyacyl-CoA dehydrogenase deficiency
HMX1 Oculoauricular syndrome
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KLKB1 Prekallikrein deficiency
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MFSD8 Ceroid lipofuscinosis, neuronal, 7
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
Pseudohypoaldosteronism type I, autosomal dominant
ODAM Amelogenesis imperfecta, hypomaturation type, IIA4
PDE6B Retinitis pigmentosa 40
Night blindness, congenital stationary, autosomal dominant 2
PDGFRA Gastrointestinal stromal tumor
PHOX2B Neuroblastoma, susceptiblity to, 2
Neuroblastoma with Hirschsprung disease
Central hypoventilation syndrome, congenital
PKD2 Polycystic kidney disease 2
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PRSS12 Mental retardation, autosomal recessive 1
QDPR Hyperphenylalaninemia, BH4-deficient, C
RBPJ Adams-Oliver syndrome 3
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
SRP72 Bone marrow failure syndrome 1
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TMEM165 Congenital disorder of glycosylation, type IIk
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
UVSSA UV-sensitive syndrome 3
VEGFC Lymphedema, hereditary, ID
WDR19 Senior-Loken syndrome 8
Retinitis pigmentosa
Nephronophthisis 13
Cranioectodermal dysplasia 4
Short-rib thoracic dysplasia 5 with or without polydactyly
WFS1 Wolfram syndrome
ZNF141 Postaxial polydactyly type A, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 5915
Number of Genes: 398

Export to: CSV

C4orf36

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 mm170241ct 4 rs28664715
dbSNP
87809025 1488.77 T C . 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03754 0.03754 0.06574 0.00 0.97 None None None None None None None

C4orf40

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 mm170241ct 4 rs1612460
dbSNP
71024099 669.77 A G . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03854 0.03854 0.08419 0.20 0.09 None None None None None None None

C4orf45

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 mm170241ct 4 rs17037864
dbSNP
159894391 2676.77 G A . 0/1 167 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15455 0.15460 0.09329 0.60 0.01 None None None None None None None
View mm170241ct 4 rs619128
dbSNP
159894250 3902.77 C T . 1/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97863 0.97860 0.02086 1.00 0.00 None None None None None None None
View mm170241ct 4 rs662473
dbSNP
159894305 4928.77 T C . 1/1 147 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98103 0.98100 0.01700 1.00 0.00 None None None None None None None

C4orf48

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 mm170241ct 4 rs570712
dbSNP
2044128 130.78 C T . 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99281 0.99280 1.00 0.00 None None None None None None None

C4orf50

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 mm170241ct 4 rs751240
dbSNP
5990599 2121.77 T C . 1/1 64 SYNONYMOUS_CODING LOW SILENT 0.96206 0.96210 None None None None None None None
View mm170241ct 4 rs6845455
dbSNP
5990339 504.77 G A . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69828 0.69830 0.16 0.00 None None None None None None None
View mm170241ct 4 rs16837960
dbSNP
5975538 1130.77 G A . 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52296 0.52300 0.43049 0.09 0.05 None None None None None None None
View mm170241ct 4 rs4266238
dbSNP
5991476 548.77 G A . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65316 0.65320 0.18 0.14 None None None None None None None
View mm170241ct 4 rs4234711
dbSNP
5991384 1034.77 T C . 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73802 0.73800 1.00 0.00 None None None None None None None
View mm170241ct 4 rs4689287
dbSNP
5990110 1030.77 C A . 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37360 0.37360 0.28818 0.49 0.82 None None None None None None None
View mm170241ct 4 rs2016083
dbSNP
5990791 2679.77 A G . 0/1 169 SYNONYMOUS_CODING LOW SILENT 0.72524 0.72520 None None None None None None None
View mm170241ct 4 rs6839295
dbSNP
5966801 881.77 T C . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27616 0.27620 0.32685 1.00 0.00 None None None None None None None
View mm170241ct 4 rs58136927
dbSNP
5990551 980.77 G A . 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.32368 0.32370 None None None None None None None

CABS1

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 mm170241ct 4 rs2291182
dbSNP
71201648 5088.77 T G . 0/1 336 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11442 0.11440 0.06666 0.00 0.93 None None None None None None None
View mm170241ct 4 rs1351419
dbSNP
71201388 7640.77 C T . 1/1 218 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92352 0.92350 0.09589 0.48 0.00 None None None None None None None

CBR4

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 4 rs2877380
dbSNP
169928842 1504.77 G T . 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72005 0.72000 0.33264 0.22 0.01 None None None None None None None

CCDC109B

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 4 rs3733611
dbSNP
110603784 5373.77 T C . 1/1 159 SYNONYMOUS_CODING LOW SILENT 0.69429 0.69430 0.28402 None None None None None None None
View mm170241ct 4 rs13846
dbSNP
110605744 416.77 A T . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23622 0.23620 0.22805 0.06 0.56 None None None None None None None

CCDC110

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 4 rs7687202
dbSNP
186379371 6112.77 G A . 1/1 173 SYNONYMOUS_CODING LOW SILENT 0.97744 0.97740 0.02553 None None None None None None None
View mm170241ct 4 rs36007437
dbSNP
186380295 8922.77 A G . 1/1 260 SYNONYMOUS_CODING LOW SILENT 0.29493 0.29490 0.39827 None None None None None None None
View mm170241ct 4 rs11132306
dbSNP
186380515 5469.77 G A . 1/1 156 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38439 0.38440 0.48508 0.88 0.00 None None None None None None None
View mm170241ct 4 rs11132309
dbSNP
186382206 1911.77 A G . 1/1 56 SYNONYMOUS_CODING LOW SILENT 0.38419 0.38420 0.48246 None None None None None None None
View mm170241ct 4 rs7699687
dbSNP
186381115 4904.77 G T . 1/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38558 0.38560 0.48492 1.00 0.00 None None None None None None None
View mm170241ct 4 rs59319722
dbSNP
186380243 8449.77 A C . 1/1 236 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38478 0.38480 0.48309 1.00 0.00 None None None None None None None
View mm170241ct 4 rs35596415
dbSNP
186379899 4573.77 G C . 1/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38439 0.38440 0.48545 1.00 0.01 None None None None None None None
View mm170241ct 4 rs7698680
dbSNP
186380846 5967.77 A T . 1/1 170 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38558 0.38560 0.48685 0.64 0.03 None None None None None None None
View mm170241ct 4 rs7699724
dbSNP
186381165 7092.77 G A . 1/1 199 SYNONYMOUS_CODING LOW SILENT 0.38558 0.38560 0.48546 None None None None None None None

CCDC96

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 4 rs871133
dbSNP
7044357 210.8 A G . 1/1 9 SYNONYMOUS_CODING LOW SILENT 0.96506 0.96510 0.03329 None None None None None None None
View mm170241ct 4 rs871134
dbSNP
7044380 167.9 C T . 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51138 0.51140 0.37873 0.04 0.00 None None None None None None None

CCNA2

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 4 rs769242
dbSNP
122742217 13957.77 T C . 1/1 400 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96865 0.96870 0.03091 0.77 0.00 None None None None None None None

CDKN2AIP

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 4 rs147291711,rs10533201
dbSNP
184367558 3512.73 TCTG T . 0/1 141 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.36302 0.36300 0.44257 None None None None None None None

CDS1

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 4 rs36068434
dbSNP
85530633 4519.77 G T . 0/1 293 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03055 0.03055 0.03806 0.72 0.01 None None None None None None None

CENPC

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 4 rs1056789
dbSNP
68374597 1711.77 C T . 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.70048 0.70050 0.38667 None None None None None None None
View mm170241ct 4 rs11250
dbSNP
68380215 368.77 G A . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70068 0.70070 0.38824 0.19 0.27 None None None None None None None
View mm170241ct 4 rs355510
dbSNP
68384008 227.77 C T . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.70427 0.70430 0.39430 None None None None None None None

CENPE

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 4 rs139688608
dbSNP
104117345 2020.77 G A . 0/1 146 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 0.00038 None None None None None None None
View mm170241ct 4 rs2251634
dbSNP
104082349 1458.77 C T . 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.45008 0.45010 0.45846 None None None None None None None
View mm170241ct 4 rs148969710
dbSNP
104060947 2161.77 C G . 0/1 180 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00140 0.00140 0.00123 0.12 None None None None None None None
View mm170241ct 4 rs35505100
dbSNP
104067195 2872.77 T C . 0/1 189 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01597 0.01597 0.01461 0.02 None None None None None None None
View mm170241ct 4 rs1381657
dbSNP
104061993 1592.77 C G . 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21086 0.21090 0.18146 0.03 None None None None None None None

CENPU

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 4 rs6552802
dbSNP
185620751 497.77 C G . 0/1 63 None None None 0.14457 0.14460 0.18 0.00 None None None None None None None
View mm170241ct 4 rs6818447
dbSNP
185650154 1648.77 G A . 0/1 123 SYNONYMOUS_CODING LOW SILENT 0.14457 0.14460 0.19937 None None None None None None None
View mm170241ct 4 rs4616798
dbSNP
185634144 1688.77 T C . 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14457 0.14460 0.19962 1.00 0.01 None None None None None None None
View mm170241ct 4 rs902174
dbSNP
185655171 248.77 C T . 0/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.33726 0.33730 0.19143 0.28 0.00 None None None None None None None
View mm170241ct 4 rs6552804
dbSNP
185637699 1792.77 A G . 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14457 0.14460 0.19952 0.49 0.01 None None None None None None None

CEP44

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 4 rs4695918
dbSNP
175225452 6946.77 G A . 1/1 202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44030 0.44030 0.44964 1.00 0.00 None None None None None None None
View mm170241ct 4 rs1553669
dbSNP
175237408 4764.77 T C . 1/1 147 SYNONYMOUS_CODING LOW SILENT 0.68650 0.68650 0.28033 None None None None None None None

CFI

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 4 rs11098044
dbSNP
110678925 2348.77 T C . 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96685 0.96690 0.03502 0.80 0.00 None None None None None None None

CHRNA9

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 4 rs10022491
dbSNP
40337908 1952.77 T C . 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.64437 0.64440 0.34546 None None None None None None None
View mm170241ct 4 rs10009228
dbSNP
40356422 2926.77 A G . 1/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74501 0.74500 0.23558 0.43 0.00 None None None None None None None
View mm170241ct 4 rs56159866
dbSNP
40337944 881.77 C T . 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.11482 0.11480 0.18315 None None None None None None None
View mm170241ct 4 rs56241474
dbSNP
40337523 909.77 C T . 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.21705 0.21710 0.29894 None None None None None None None

CLCN3

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 4 rs34755939
dbSNP
170584703 62.77 C G . 0/1 12 None None None 0.14517 0.14520 0.66 0.00 None None None None None None None
View mm170241ct 4 rs1058868
dbSNP
170634390 1181.77 C T . 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.11761 0.11760 0.11426 None None None None None None None
View mm170241ct 4 rs4692739
dbSNP
170581570 3793.77 G A . 1/1 118 None None None 0.97484 0.97480 0.58 0.00 None None None None None None None

CLDN24

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 4 rs7688467
dbSNP
184243528 1236.77 G A . 1/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69928 0.69930 0.28 0.04 None None None None None None None

CLGN

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 4 rs147434096
dbSNP
141315152 2032.77 T G . 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.00200 0.00 0.69 None None None None None None None

CLNK

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 4 rs61759824
dbSNP
10586571 1767.77 G A . 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02596 0.02596 0.04537 0.08 0.00 None None None None None None None
View mm170241ct 4 rs2903960
dbSNP
10502937 3430.77 T G . 1/1 101 SYNONYMOUS_CODING LOW SILENT 0.99002 0.99000 0.00858 None None None None None None None

CLOCK

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 4 rs3736544
dbSNP
56309992 1610.77 A G . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.72304 0.72300 0.34130 None None None None None None None

CLRN2

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 4 rs1551091
dbSNP
17517099 1018.77 A G . 1/1 29 SYNONYMOUS_CODING LOW SILENT 0.98203 0.98200 0.02056 None None None None None None None

CNGA1

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 4 rs7693648
dbSNP
47973110 476.77 G A . 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45927 0.45930 0.00 None None None None None None None
View mm170241ct 4 rs17573673
dbSNP
47938879 3379.77 G A . 0/1 218 SYNONYMOUS_CODING LOW SILENT 0.03874 0.03874 0.06142 None None None None None None None

CNOT6L

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 4 rs6828302
dbSNP
78740132 319.78 G C . 1/1 9 None None None 0.76198 0.76200 0.14 0.00 None None None None None None None

COL25A1

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 4 rs17596705
dbSNP
109841743 2472.77 C T . 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.12260 0.12260 0.20899 None None None None None None None
View mm170241ct 4 rs7689008
dbSNP
109745336 4448.77 T G . 1/1 138 SYNONYMOUS_CODING LOW SILENT 0.31010 0.31010 0.35179 None None None None None None None
View mm170241ct 4 rs17531474
dbSNP
109863370 1851.77 C T . 0/1 104 None None None 0.04792 0.04792 0.23 None None None None None None None

COQ2

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 4 rs6818847
dbSNP
84205872 342.77 C A . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64976 0.64980 0.31481 0.33 0.00 None None None None None None None
View mm170241ct 4 rs6535454
dbSNP
84191031 3727.77 A G . 0/1 290 SYNONYMOUS_CODING LOW SILENT 0.77816 0.77820 0.26315 None None None None None None None
View mm170241ct 4 rs1129617
dbSNP
84188850 761.77 G A . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.21026 0.21030 0.22084 None None None None None None None

CORIN

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 4 rs2289433
dbSNP
47839929 568.77 C T . 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69349 0.69350 0.29479 1.00 0.00 None None None None None None None
View mm170241ct 4 rs10517195
dbSNP
47682174 4784.77 A G . 1/1 149 SYNONYMOUS_CODING LOW SILENT 0.37101 0.37100 0.49439 None None None None None None None
View mm170241ct 4 rs11934749
dbSNP
47667064 3514.77 T C . 1/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91094 0.91090 0.10941 1.00 0.00 None None None None None None None

CPEB2

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 4 rs112476821
dbSNP
15005604 418.77 G A . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47264 0.47260 0.41532 1.00 0.00 None None None None None None None
View mm170241ct 4 rs143336011
dbSNP
15004871 179.77 G C . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04812 0.04812 0.15 0.00 None None None None None None None
View mm170241ct 4 rs142927413
dbSNP
15005641 471.77 C T . 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.04972 0.04972 0.02356 None None None None None None None
View mm170241ct 4 rs7435318
dbSNP
15004655 3078.77 G A . 1/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80052 0.80050 1.00 0.00 None None None None None None None

CPZ

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 4 rs11723641
dbSNP
8601298 1378.77 G A . 0/1 103 None None None 0.32847 0.32850 0.35392 None None None None None None None
View mm170241ct 4 rs4301095
dbSNP
8602884 639.77 T C . 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.98343 0.98340 0.01607 None None None None None None None
View mm170241ct 4 rs28514374
dbSNP
8621194 1903.77 A G . 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.99541 0.99540 0.00354 None None None None None None None
View mm170241ct 4 rs2302583
dbSNP
8594574 413.77 T C . 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80611 0.80610 0.16 0.00 None None None None None None None
View mm170241ct 4 rs1131140
dbSNP
8616096 281.77 T C . 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.61681 0.61680 0.49731 None None None None None None None
View mm170241ct 4 rs34964084
dbSNP
8594577 125.77 C T . 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13079 0.13080 0.09572 0.02 0.00 None None None None None None None
View mm170241ct 4 rs7378066
dbSNP
8616179 895.77 T C . 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99541 0.99540 0.00577 0.80 0.00 None None None None None None None
View mm170241ct 4 rs6852001
dbSNP
8605818 262.77 C T . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.16114 0.16110 0.18709 None None None None None None None
View mm170241ct 4 rs4431213
dbSNP
8602935 1130.77 A G . 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.98343 0.98340 0.01584 None None None None None None None

CRIPAK

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 4 rs530576391
dbSNP
1389448 342.77 T C . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.00180 0.00180 None None None None None None None
View mm170241ct 4 rs78309237
dbSNP
1388413 361.77 T C . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.21166 0.21170 0.31893 None None None None None None None
View mm170241ct 4 rs79298048
dbSNP
1388429 332.77 G A . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18850 0.18850 0.30371 0.14 0.00 None None None None None None None
View mm170241ct 4 rs9328733
dbSNP
1388583 300.77 A G . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77197 0.77200 0.23774 0.08 0.00 None None None None None None None
View mm170241ct 4 rs78906219
dbSNP
1388693 81.77 C G . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17252 0.17250 1.00 0.00 None None None None None None None
View mm170241ct 4 rs76728908
dbSNP
1388724 12.99 C G LowQual 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11102 0.11100 0.30 0.00 None None None None None None None
View mm170241ct 4 rs71614970
dbSNP
1389005 30.77 T C . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17153 0.17150 0.35 0.00 None None None None None None None
View mm170241ct 4 rs527798572
dbSNP
1389034 12.99 C G LowQual 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.02656 0.02656 None None None None None None None
View mm170241ct 4 rs71614971
dbSNP
1389101 85.77 A G . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19988 0.19990 0.29396 0.42 0.00 None None None None None None None
View mm170241ct 4 rs71614972
dbSNP
1389156 76.77 T C . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75859 0.75860 0.30 0.00 None None None None None None None
View mm170241ct 4 rs71614973
dbSNP
1389161 98.77 A G . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20986 0.20990 0.45 0.00 None None None None None None None

CRMP1

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 4 rs12331
dbSNP
5838513 2427.77 C G . 1/1 80 SYNONYMOUS_CODING LOW SILENT 0.58866 0.58870 0.41888 None None None None None None None