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Genes:
ABAT, ABCA10, AC024592.12, ADH4, AL050302.1, ANKRD30A, ANKRD36, ANKRD36C, APOBEC3H, AQP7, ARHGEF37, ARL2, ASAH1, BRWD3, BTNL2, C10ORF68, C11orf52, C12orf55, C16orf71, C1orf204, C20orf96, C2orf76, C2orf80, C4orf33, C5AR1, C5orf45, C7orf25, CAMKK1, CD109, CD68, CDC27, CDH23, CDK11A, CDK11B, CDRT1, CDRT15, CEACAM18, CENPU, CEP63, CHAT, CHN2, CILP, CNTRL, CNTROB, COL11A2, COL5A3, COLEC12, CPA6, CPOX, CR1, CRISPLD2, CRTAM, CTC1, CYP11B1, CYP20A1, CYP2A7, CYP2D7P, DBNDD2, DHODH, DLL3, DNAH10, DNAH14, DNAH9, DNPEP, DROSHA, ECI2, ECT2L, EFCAB4A, EMG1, EMR1, EPHA1, EXD3, FAM129C, FCRL4, FER1L6, FOCAD, FOLH1, FRG1B, GALNTL5, GANC, GRK4, GYPA, GYPE, HAP1, HEG1, HERC6, HFM1, HHLA1, HLA-A, HLA-C, HLA-DRB1, HLA-DRB5, HMGXB3, HNF4G, HOPX, ICAM3, ICT1, IFI35, IGHA2, IGHD2-2, IGHV3-30, IGHV3-64, IGHV4-28, IGSF5, IRAK3, ITGA8, ITGAX, ITIH4, JUP, KCNK15, KIAA1731, KMT2C, LAMC3, LCN8, LGALS8, LILRB3, LINC01118, LMF2, LPCAT1, LPIN3, LRP1, LRP8, LRRK2, MAP2K3, MEGF6, MINK1, MLXIPL, MRGPRF, MSH3, MUC16, MUC19, MUC2, MUC3A, MYH15, MYO3A, MYO5A, MYOM1, MYOM2, NAAA, NBPF1, NBPF10, NBPF20, NBPF3, NEB, NEURL4, NLE1, NME8, NOM1, NRAP, NRCAM, ORM1, P2RX7, PABPC1, PARP4, PCNT, PDE4DIP, PGLYRP3, PIGT, PLXDC1, PM20D1, POMGNT1, PPCDC, PRAME, PREX1, PROK1, PRR23D1, PSEN1, PTF1A, PTPRQ, RBAK-RBAKDN, RGPD3, RGPD4, RP11-758M4.1, RPGRIP1, RRN3, S100A7L2, SAA1, SDC2, SEC14L6, SETDB2, SFTPB, SIGLEC10, SLC12A1, SLC15A5, SLC5A4, SLU7, SLX4IP, STAB1, SYNRG, TCN2, TGM4, TMEM175, TNFAIP6, TNK1, TPCN2, TPR, TRIM48, TRIM69, TTC16, TTN, TUBA3E, TULP3, UBA6, ULK3, USP6, VARS2, VPS54, VSTM1, VWA3B, WDR46, WDR66, WDR78, ZAN, ZBBX, ZBP1, ZCCHC14, ZDHHC13, ZFYVE26, ZNF177, ZNF443, ZNF695, ZNF705G, ZNF717, ZP1, ZSCAN5C,

Genes at Omim

ABAT, AQP7, ASAH1, BRWD3, BTNL2, CDH23, CEP63, CHAT, CILP, COL11A2, CPA6, CPOX, CR1, CTC1, CYP11B1, DHODH, DLL3, DNAH9, EMG1, GYPA, HFM1, HLA-A, HLA-C, HLA-DRB1, IRAK3, ITGA8, ITIH4, JUP, KMT2C, LAMC3, LRP1, LRP8, LRRK2, MSH3, MYO3A, MYO5A, NEB, NME8, PCNT, PIGT, POMGNT1, PSEN1, PTF1A, PTPRQ, RPGRIP1, SFTPB, SLC12A1, TCN2, TPCN2, TTN, VARS2, VWA3B, WDR66, ZFYVE26, ZP1,
ABAT GABA-transaminase deficiency, 613163 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
COL11A2 Fibrochondrogenesis 2, 614524 (3)
Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
CPA6 Febrile seizures, familial, 11, 614418 (3)
Epilepsy, familial temporal lobe, 5, 614417 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CR1 CR1 deficiency (1)
{Malaria, severe, resistance to}, 611162 (3)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
DHODH Miller syndrome, 263750 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
HFM1 Premature ovarian failure 9, 615724 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
MYO5A Griscelli syndrome, type 1, 214450 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PSEN1 Alzheimer disease, type 3, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)
Cardiomyopathy, dilated, 1U, 613694 (3)
Dementia, frontotemporal, 600274 (3)
Pick disease, 172700 (3)
?Acne inversa, familial, 3, 613737 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SFTPB Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VWA3B ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
WDR66 Spermatogenic failure 33, 618152 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABAT, ASAH1, BRWD3, CDH23, CEP63, CHAT, COL11A2, CPA6, CPOX, CR1, CTC1, CYP11B1, DHODH, DLL3, EMG1, GYPA, HFM1, HLA-A, ITGA8, JUP, LAMC3, LRP1, LRRK2, MSH3, MYO3A, MYO5A, NEB, NME8, PCNT, PIGT, POMGNT1, PSEN1, PTF1A, PTPRQ, RPGRIP1, SFTPB, SLC12A1, TCN2, TPCN2, TTN, VARS2, VWA3B, ZFYVE26, ZP1,
ABAT GABA-transaminase deficiency
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
BRWD3 Mental retardation, X-linked 93
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CEP63 Seckel syndrome 6
CHAT Myasthenic syndrome, congenital 6, presynaptic
COL11A2 Deafness, autosomal dominant 13
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Weissenbacher-Zweymuller syndrome
Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type III
CPA6 Febrile seizures, familial, 11
Epilepsy, familial temporal lobe, 5
CPOX Coproporphyria
Harderoporphyria
CR1 Blood group, Knops system
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DLL3 Spondylocostal dysostosis 1, autosomal recessive
EMG1 Bowen-Conradi syndrome
GYPA Blood group, MN locus
Blood group, Erik
HFM1 Premature ovarian failure 9
HLA-A Drug-induced toxicity, susceptibility to
ITGA8 Renal agenesis, bilateral
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
LAMC3 Cortical malformations, occipital
LRP1 Schizophrenia
LRRK2 Parkinson disease 8
Dementia, Lewy body
MSH3 Endometrial carcinoma
MYO3A Deafness, autosomal recessive 30
MYO5A Griscelli syndrome, type 1
NEB Nemaline myopathy 2
NME8 Ciliary dyskinesia, primary, 6
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PSEN1 Cardiomyopathy, dilated 1U
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
PTPRQ Deafness, autosomal recessive 84
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SFTPB Surfactant metabolism dysfunction, pulmonary 1
SLC12A1 Bartter syndrome, antenatal, type 1
TCN2 Transcobalamin II deficiency
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
VARS2 Combined oxidative phosphorylation deficiency 20
VWA3B Spinocerebellar ataxia, autosomal recessive 22
ZFYVE26 Spastic paraplegia 15
ZP1 Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 248
Number of Genes: 225

Export to: CSV

ABAT

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 16 rs1731017
dbSNP Clinvar
8839954 387.77 A G . 0/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.50080 0.50080 0.48599 0.61 0.00 None None None None None None ABAT|0.163825558|41.04%

ABCA10

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 17 rs11657804
dbSNP Clinvar
67210992 488.77 T C . 0/1 26 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.12 None None None None None None ABCA10|0.002179826|90.49%

AC024592.12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 19 rs778971
dbSNP Clinvar
5867748 2217.77 G T . 0/1 169 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63878 0.63880 0.46529 0.09 0.65 None None None None None None FUT5|0.001156471|94.68%

ADH4

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 mm171122md 4 rs1126673
dbSNP Clinvar
100045616 1112.77 C T . 0/1 82 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%

AL050302.1

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 mm171122md 21 rs745317651
dbSNP Clinvar
14745373 504.77 G A . 0/1 30 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.34 0.00 None None None None None None None

ANKRD30A

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 10 rs200974283
dbSNP Clinvar
37433982 103.77 C G . 0/1 60 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.25 0.00 None None None None None None ANKRD30A|0.001436042|93.14%
View mm171122md 10 rs200164455
dbSNP Clinvar
37433983 94.77 G T . 0/1 58 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.19 0.08 None None None None None None ANKRD30A|0.001436042|93.14%

ANKRD36

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 2 rs4063403
dbSNP Clinvar
97823903 182.77 T G . 0/1 128 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.49 0.01 None None None None None None ANKRD36|0.001192347|94.46%
View mm171122md 2 rs10194525
dbSNP Clinvar
97877478 814.77 G A . 0/1 85 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02 0.61 None None None None None None ANKRD36|0.001192347|94.46%
View mm171122md 2 rs2315148
dbSNP Clinvar
97823845 561.77 A C . 0/1 117 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.61 0.01 None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C

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 mm171122md 2 rs74946480
dbSNP Clinvar
96619688 1136.77 T G . 0/1 104 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06 0.09 None None None None None None ANKRD36C|0.001406745|93.3%
View mm171122md 2 rs113949773
dbSNP Clinvar
96521928 41.77 C T . 0/1 108 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.49 0.00 None None None None None None ANKRD36C|0.001406745|93.3%
View mm171122md 2 rs62154594
dbSNP Clinvar
96610921 6119.77 T G . 0/1 325 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.28 0.03 None None None None None None ANKRD36C|0.001406745|93.3%
View mm171122md 2 rs4362598
dbSNP Clinvar
96626292 415.77 C T . 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.87 0.00 None None None None None None ANKRD36C|0.001406745|93.3%

APOBEC3H

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 22 rs139300
dbSNP Clinvar
39497509 419.77 A G . 1/1 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%

AQP7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 9 rs62542746
dbSNP Clinvar
33385863 53.77 G T . 0/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.01 None None None None None None AQP7|0.012677613|78.76%

ARHGEF37

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 5 rs9324624
dbSNP Clinvar
149006640 1346.77 C T . 0/1 93 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37560 0.37560 0.47589 0.00 0.96 None None None None None None ARHGEF37|0.046932636|63.62%

ARL2

Omim - GeneCards - NCBI
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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 11 rs664226
dbSNP Clinvar
64789194 480.77 T C . 1/1 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45767 0.45770 0.34562 1.00 0.00 None None None None None None ARL2|0.107780954|49.62%

ASAH1

Omim - GeneCards - NCBI
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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 8 rs1071645
dbSNP Clinvar
17928811 2002.77 C T . 1/1 61 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None ASAH1|0.03988949|65.81%

BRWD3

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 X rs3122407
dbSNP Clinvar
79943569 993.77 T C . 1/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%

BTNL2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs2076530
dbSNP Clinvar
32363816 1092.77 T C . 1/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38698 0.38700 0.39699 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%

C10ORF68

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 10 rs4448627
dbSNP Clinvar
33123824 1005.77 G C . 1/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98363 0.98360 0.01772 1.00 0.00 None None None None None None None

C11orf52

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 11 rs7124407
dbSNP Clinvar
111795085 370.77 C G . 0/1 42 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33646 0.33650 0.26985 0.29 0.00 None None None None None None C11orf52|0.012567923|78.85%

C12orf55

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 12 rs7978894
dbSNP Clinvar
97136218 372.77 T C . 0/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.42911 0.42910 0.36185 0.88 0.00 None None None None None None CFAP54|0.043483617|64.67%

C16orf71

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 mm171122md 16 rs2075469
dbSNP Clinvar
4794873 622.77 C T . 1/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55152 0.55150 0.40049 0.02 0.31 None None None None None None C16orf71|0.001288696|93.97%
View mm171122md 16 rs859310
dbSNP Clinvar
4787987 2220.77 G A . 1/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.52816 0.52820 0.44344 0.55 0.00 None None None None None None C16orf71|0.001288696|93.97%

C1orf204

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 1 rs2501340
dbSNP Clinvar
159824967 774.77 G C . 0/1 66 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.93111 0.93110 0.10075 1.00 0.00 None None None None None None C1orf204|0.004343057|86.55%,VSIG8|0.077707151|55.73%

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 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%

C2orf76

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 2 rs1132267
dbSNP Clinvar
120078778 1552.77 T C . 0/1 127 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.65555 0.65560 0.29676 0.72 0.02 None None None None None None C2orf76|0.21195474|35.37%

C2orf80

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 2 rs10804166
dbSNP Clinvar
209036712 2170.77 T C . 1/1 64 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.85683 0.85680 0.10988 0.11 0.01 None None None None None None C2orf80|0.034135289|67.74%

C4orf33

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 4 rs17351999
dbSNP Clinvar
130032843 865.77 A G . 0/1 82 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09645 0.09645 0.11156 0.00 1.00 None None None None None None C4orf33|0.075968961|56.1%

C5AR1

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 19 rs4467185
dbSNP Clinvar
47823038 2339.77 G A . 1/1 78 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96945 0.96940 0.03260 0.24 0.00 None None None None None None C5AR1|0.017691217|75.49%

C5orf45

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 5 rs1650893
dbSNP Clinvar
179280379 489.77 T C . 0/1 39 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.34507 1.00 0.00 None None None None None None C5orf45|0.001770546|91.6%

C7orf25

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 7 rs647117
dbSNP Clinvar
42951515 342.77 G A . 0/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63039 0.63040 0.07 0.00 None None None None None None C7orf25|0.170413051|40.26%

CAMKK1

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 17 rs7214723
dbSNP Clinvar
3775848 1153.77 T C . 0/1 103 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.39537 0.39540 0.35307 0.05 0.01 None None None None None None CAMKK1|0.110934351|49.01%

CD109

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 6 rs10455097
dbSNP Clinvar
74493432 544.77 A C . 0/1 45 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.51558 0.51560 0.44364 1.00 0.00 None None None None None None CD109|0.035884994|67.17%

CD68

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 17 rs9901673
dbSNP Clinvar
7484101 1673.77 C A . 0/1 104 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.15755 0.15750 0.17146 0.06 0.01 None None None None None None CD68|0.111896579|48.87%

CDC27

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 17 rs74348171
dbSNP Clinvar
45214519 172.77 A G . 0/1 65 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 1.00 None None None None None None CDC27|0.658499283|9.78%

CDH23

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 10 rs3802719
dbSNP Clinvar
73270982 1361.77 G A . 0/1 71 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.72524 0.72520 0.26035 0.65 0.00 None None None None None None CDH23|0.499757104|15.83%

CDK11A

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 1 rs1059830
dbSNP Clinvar
1650797 534.77 A G . 0/1 51 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None CDK11A|0.02662445|71.07%

CDK11B

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 1 rs150949339
dbSNP Clinvar
1571841 799.77 A C . 0/1 210 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06770 0.16 0.05 None None None None None None CDK11B|0.035106536|67.44%

CDRT1

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 17 rs62070401
dbSNP Clinvar
15510888 873.77 G A . 0/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.29273 0.29270 0.19560 0.08 0.40 None None None None None None CDRT1|0.012808391|78.64%

CDRT15

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 17 rs4791565
dbSNP Clinvar
14139891 2473.77 A C . 1/1 95 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02157 0.96900 0.18 0.00 None None None None None None CDRT15|0.000811376|96.58%

CEACAM18

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 19 rs75588884
dbSNP Clinvar
51981946 972.77 T C . 0/1 77 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01677 0.01677 0.02142 0.57 0.00 None None None None None None CEACAM18|0.000390777|98.99%

CENPU

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 4 rs902174
dbSNP Clinvar
185655171 936.77 C T . 0/1 106 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33726 0.33730 0.19143 0.28 0.15 None None None None None None CENPU|0.009477958|81.29%

CEP63

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 3 rs1127826
dbSNP Clinvar
134278270 612.77 C T . 1/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.32708 0.32710 0.26734 0.71 0.00 None None None None None None CEP63|0.16402888|41.02%

CHAT

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 10 rs4838544
dbSNP Clinvar
50856652 2612.77 G A . 1/1 77 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96645 0.96650 0.03898 1.00 0.00 None None None None None None CHAT|0.652613184|10%

CHN2

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 7 rs245881
dbSNP Clinvar
29186576 416.77 A G . 0/1 28 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.83227 0.83230 0.68 0.00 None None None None None None CPVL|0.069415572|57.61%,CHN2|0.513485273|15.21%

CILP

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 15 rs2073711
dbSNP Clinvar
65494212 1081.77 A G . 1/1 28 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.49661 0.49660 0.36379 0.10 0.00 None None None None None None CILP|0.25593882|31.04%

CNTRL

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 9 rs563584469
dbSNP Clinvar
123911137 1081.77 G T . 0/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.47 None None None None None None CNTRL|0.185268471|38.32%

CNTROB

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 17 rs11650083
dbSNP Clinvar
7847955 1039.77 C A . 1/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.60463 0.60460 0.46394 0.37 0.01 None None None None None None CNTROB|0.086163509|53.91%

COL11A2

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 6 rs2855430
dbSNP Clinvar
33141280 1135.77 G A . 0/1 61 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10224 0.10220 0.09618 0.05 0.69 None None None None None None COL11A2|0.304557874|27.33%

COL5A3

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 19 rs2161468
dbSNP Clinvar
10088271 3553.77 C G . 1/1 104 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.35024 0.35020 0.38990 1.00 0.00 None None None None None None COL5A3|0.039580114|65.88%
View mm171122md 19 rs2287803
dbSNP Clinvar
10112346 5759.77 T C . 1/1 173 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.92971 0.92970 0.02391 0.66 0.00 None None None None None None COL5A3|0.039580114|65.88%

COLEC12

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 18 rs2305027
dbSNP Clinvar
334742 135.77 C T . 0/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36761 0.36760 0.42588 0.06 1.00 None None None None None None COLEC12|0.362523137|23.25%

CPA6

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 8 rs17343819
dbSNP Clinvar
68396915 1360.77 T C . 0/1 69 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07907 0.07907 0.12410 0.35 0.00 None None None None None None CPA6|0.268380229|29.99%

CPOX

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 3 rs1131857
dbSNP Clinvar
98307696 1553.77 T G . 0/1 136 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24581 0.24580 0.23835 0.07 0.52 None None None None None None CPOX|0.108402411|49.49%

CR1

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 1 rs2296160
dbSNP Clinvar
207795320 1955.77 A G . 1/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.82808 0.82810 0.18299 0.87 0.00 None None None None None None CR1|0.004291335|86.61%

CRISPLD2

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 16 rs149615348
dbSNP Clinvar
84900645 524.77 G A . 0/1 42 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00260 0.00260 0.00569 0.01 0.08 None None None None None None CRISPLD2|0.046043244|63.89%

CRTAM

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 11 rs2272094
dbSNP Clinvar
122738261 1026.77 A G . 1/1 28 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55032 0.55030 0.37848 1.00 0.01 None None None None None None CRTAM|0.009908361|80.92%

CTC1

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 17 rs3826543
dbSNP Clinvar
8132763 1414.77 T C . 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.66354 0.66350 0.19913 1.00 0.00 None None None None None None CTC1|0.030020163|69.4%

CYP11B1

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 8 rs75717953
dbSNP Clinvar
143959174 642.77 T C . 0/1 156 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.00 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%

CYP20A1

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 2 rs2043449
dbSNP Clinvar
204116690 2768.77 C T . 1/1 80 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.86941 0.86940 0.11187 0.38 0.00 None None None None None None CYP20A1|0.211713855|35.4%

CYP2A7

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 19 rs10425176
dbSNP Clinvar
41387656 2247.77 A T . 1/1 102 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.51817 0.51820 0.20 0.00 None None None None None None CYP2A7|0.002245783|90.29%

CYP2D7P

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 22 rs2854741
dbSNP Clinvar
42537404 1028.77 G C . 0/1 71 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.82768 0.82770 0.00 None None None None None None None

DBNDD2

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 rs1127497
dbSNP Clinvar
44038574 710.77 A G . 0/1 69 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76118 0.76120 0.16398 1.00 0.00 None None None None None None DBNDD2|0.078431837|55.57%

DHODH

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 16 rs3213422
dbSNP Clinvar
72042682 2001.77 A C . 0/1 137 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.56410 0.56410 0.45535 0.19 0.01 None None None None None None DHODH|0.325470662|25.78%

DLL3

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 19 rs1110627
dbSNP Clinvar
39994711 470.77 T C . 0/1 29 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.62999 0.63000 0.40989 1.00 0.00 None None None None None None DLL3|0.048875309|62.99%

DNAH10

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 12 rs35685787
dbSNP Clinvar
124332641 1161.77 G A . 0/1 70 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05212 0.05212 0.05339 1.00 0.00 None None None None None None DNAH10|0.023863488|72.27%
View mm171122md 12 rs10846559
dbSNP Clinvar
124274474 672.77 A G . 0/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.83786 0.83790 0.26941 1.00 0.00 None None None None None None DNAH10|0.023863488|72.27%

DNAH14

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 1 rs3128658
dbSNP Clinvar
225273248 1719.77 G T . 1/1 48 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70208 0.70210 0.17487 0.27 0.08 None None None None None None DNAH14|0.006049116|84.53%

DNAH9

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 17 rs17612861
dbSNP Clinvar
11835331 735.77 G A . 0/1 59 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21006 0.21010 0.24958 0.07 0.25 None None None None None None DNAH9|0.176098085|39.51%

DNPEP

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 2 rs907679
dbSNP Clinvar
220250147 2014.77 A G . 1/1 60 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 0.00008 0.71 0.00 None None None None None None DNPEP|0.133178118|45.42%

DROSHA

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 5 rs187981384
dbSNP Clinvar
31515324 345.77 C T . 0/1 35 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.00020 0.01 0.38 None None None None None None DROSHA|0.728536624|7.71%

ECI2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs7166
dbSNP Clinvar
4116262 353.77 G A . 0/1 48 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.30811 0.30810 0.29756 0.05 0.02 None None None None None None C6orf201|0.002009293|90.99%,ECI2|0.043978171|64.53%

ECT2L

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 mm171122md 6 rs1529151
dbSNP Clinvar
139197609 1171.77 G A . 0/1 87 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27616 0.27620 0.26691 0.30 0.00 None None None None None None ECT2L|0.046595352|63.71%

EFCAB4A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 11 rs28558789
dbSNP Clinvar
829539 1107.77 A G . 1/1 34 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.66554 0.66550 0.33928 1.00 0.00 None None None None None None CRACR2B|0.008716499|81.94%

EMG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 12 rs17857448
dbSNP Clinvar
7080212 3324.77 T C . 1/1 99 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None EMG1|0.122491052|47.03%

EMR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 19 rs2228539
dbSNP Clinvar
6926378 340.77 T C . 0/1 23 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.31969 0.31970 0.37929 0.79 0.00 None None None None None None ADGRE1|0.00211453|90.69%

EPHA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 7 rs6967117
dbSNP Clinvar
143088867 3195.8 T C . 1/1 93 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96026 0.96030 0.07712 1.00 0.00 None None None None None None EPHA1|0.09868361|51.45%

EXD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 9 rs7389423
dbSNP Clinvar
140250818 1396.77 C T . 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.92073 0.92070 0.10805 1.00 0.00 None None None None None None EXD3|0.002541663|89.59%

FAM129C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 19 rs8107859
dbSNP Clinvar
17648350 778.77 T C . 1/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.90096 0.90100 0.02124 1.00 0.00 None None None None None None FAM129C|0.003613266|87.58%

FCRL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 1 rs75108086
dbSNP Clinvar
157566136 796.77 G A . 0/1 53 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00759 0.00759 0.01223 0.68 0.49 None None None None None None FCRL4|0.001216047|94.36%

FER1L6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 8 rs7012186
dbSNP Clinvar
125076589 2211.77 T G . 1/1 63 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.77336 0.77340 0.15575 1.00 0.00 None None None None None None FER1L6|0.120888602|47.29%

FOCAD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 9 rs4977881
dbSNP Clinvar
20988426 1246.77 A G . 1/1 37 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76857 0.76860 0.25704 1.00 0.00 None None None None None None FOCAD|0.402062048|20.62%

FOLH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 11 rs202676
dbSNP Clinvar
49227620 1115.77 A G . 0/1 59 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38638 0.38640 0.32566 0.13 0.00 None None None None None None FOLH1|0.065976588|58.36%

FRG1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 20 rs78003242
dbSNP Clinvar
29625873 191.77 A C . 0/1 478 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 0.91 None None None None None None FRG1B|0.009509512|81.26%
View mm171122md 20 rs60081496
dbSNP Clinvar
29633900 735.77 A G . 0/1 359 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21 0.16 None None None None None None FRG1B|0.009509512|81.26%

GALNTL5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 7 rs6960270
dbSNP Clinvar
151680072 930.77 T C . 0/1 94 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.80112 0.80110 0.18069 0.00 1.00 None None None None None None GALNTL5|0.001268389|94.06%

GANC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 15 rs8043515
dbSNP Clinvar
42568547 1735.77 C G . 1/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.95447 0.95450 0.02061 0.00 None None None None None None GANC|0.071251222|57.16%
View mm171122md 15 rs7181742
dbSNP Clinvar
42643529 1178.77 T C . 0/1 83 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37840 0.37840 0.30437 0.00 None None None None None None GANC|0.071251222|57.16%,CAPN3|0.385639795|21.69%

GRK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 4 rs1140085
dbSNP Clinvar
3015553 2146.77 G A . 1/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.04333 0.04333 0.09696 0.33 0.46 None None None None None None GRK4|0.014130341|77.79%

GYPA

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 4 rs4449373
dbSNP Clinvar
145041741 1497.77 T G . 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.87520 0.87520 0.34 0.00 None None None None None None GYPB|0.000311955|99.37%,GYPA|0.000199751|99.78%

GYPE

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 4 rs1132785
dbSNP Clinvar
144801662 3427.29 C G,T . 1/2 129 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.30891 0.30890 1.00 0.00 None None None None None None GYPE|0.000492079|98.47%

HAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 17 rs4796693
dbSNP Clinvar
39884583 1000.77 G A . 0/1 86 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.77316 0.77320 0.28341 0.04 0.26 None None None None None None JUP|0.822839641|5.24%,HAP1|0.012770935|78.67%

HEG1

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 3 rs2981546
dbSNP Clinvar
124746049 417.77 A G . 0/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.48882 0.48880 0.45841 0.19 0.00 None None None None None None HEG1|0.04030264|65.66%

HERC6

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 4 rs17014118
dbSNP Clinvar
89319296 633.77 T C . 0/1 67 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55511 0.55510 0.32232 1.00 0.00 None None None None None None HERC6|0.009446474|81.34%

HFM1

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 1 rs11584478
dbSNP Clinvar
91782031 534.77 T C . 0/1 50 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.12500 0.12500 0.21667 1.00 0.01 None None None None None None HFM1|0.152408983|42.61%

HHLA1

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 8 rs2280851
dbSNP Clinvar
133089975 783.77 A G . 0/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.74541 0.74540 0.23960 1.00 0.00 None None None None None None HHLA1|0.007496766|83.08%

HLA-A

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 6 rs1136692
dbSNP Clinvar
29910801 614.77 C A . 0/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.29633 0.29630 0.25535 0.22 0.00 None None None None None None HLA-A|0.043055872|64.8%