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+ Genes 414

Genes:
ABCA7, ABCG8, AC004899.1, AC011500.1, ACE, ADAM11, ADAM15, ADAMTS4, ADAMTS7, ADRA1D, ADRA2C, ADRBK1, AGAP1, AGAP4, AGAP7, AGAP8, AKAP13, AKR1CL1, AL358113.1, ALDH4A1, ALKBH7, ALOX15B, ALPP, AMH, ANKRD24, ANKRD36C, ANKRD53, ANKRD63, APBA3, ARHGAP23, ARHGAP4, ARHGAP8, ARHGEF18, ATG2A, ATP6AP1, ATRAID, ATXN2, B3GNT6, BMP6, C15orf37, C18orf25, C1orf106, C1orf167, C21orf58, C2CD2, C5AR1, C7orf13, CACFD1, CACNA1A, CACNA1H, CAPN8, CASP4, CASP9, CASZ1, CBS, CBX4, CCDC151, CCDC85A, CCDC85C, CDAN1, CDHR5, CDK5RAP3, CDRT1, CECR6, CEP170, CH17-132F21.1, CHGA, CHRD, CHRNA3, CHTF18, CIRBP, CLC, CLCN7, CLIC6, CMPK1, CNP, CNTNAP3B, COG4, COG6, COL14A1, COL18A1, COL5A3, COL6A1, CPXM2, CRB2, CRCT1, CTB-133G6.1, CTSF, CTU2, CUL9, CUX1, CYFIP1, CYP4F12, DAK, DCP2, DENND6B, DHX37, DLEC1, DNAH17, DOC2B, DRC1, EME2, EMR2, EMX1, ENTPD8, EPPK1, FAM120C, FAM46A, FAM47A, FAM57A, FAM58A, FAM86B1, FBLN2, FBN3, FOXD4L5, FRMD1, GAD1, GAL3ST3, GAS2L1, GBP6, GBP7, GCSH, GLTSCR1, GMEB2, GORASP2, GP6, GPR142, GPR20, GRID2IP, GRIN2D, GRM7, GYG2, GYPB, HBG1, HERC5, HGFAC, HIST1H4K, HIVEP3, HKR1, HLA-DQA1, HLA-DRB5, HMHA1, HOXB5, HPCAL4, HS1BP3, HSD17B4, HSPA1B, HSPA2, HSPB7, HSPBP1, IDUA, IFITM3, IGFBP4, IGHA2, IGKV1-8, IGKV1-9, IGKV1D-17, IGLC3, IL13RA1, INTS1, IRAK1, IRF2BPL, IRF7, IRS2, ISPD, ITPR1, JARID2, KCNJ4, KCNK15, KIAA1377, KIF26A, KIR3DL3, KLHL3, KLRC3, KRT23, KRT32, KRT40, KRT7, KRT72, KRT76, KRTAP10-4, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP6-3, KSR1, KY, LAMA5, LCA10, LCE4A, LCN15, LDHC, LGALS16, LGALS3BP, LILRA6, LILRB3, LIPT2, LRIG1, LSS, MAGEC2, MAML3, MAMSTR, MAP2K3, MAPRE3, MARK4, MB, MBLAC2, MCF2L, MEGF6, METTL22, MGAM, MLK4, MLLT6, MMEL1, MMP14, MMP21, MNX1, MPRIP, MRC1, MROH7, MSLNL, MTUS2, MUC4, MUC5B, MXRA5, MYO7B, MYO9B, NACA, NDUFS7, NLE1, NOTCH3, NPY4R, NT5C, NTN1, NUP43, NUP85, NXNL1, OR2J1, OR2J2, OR2T35, OR52N1, OR5H1, OR5H15, OTOF, OTP, PCDH12, PCDHB7, PCSK5, PFKFB3, PHB2, PHLDB1, PIF1, PIK3R2, PITX1, PKP3, PLA2G4C, PNPLA5, POLM, POLRMT, POTEE, POTEI, POU3F2, PPA2, PPHLN1, PPP1R26, PRAMEF10, PRAMEF6, PRMT7, PRODH, PRR23A, PSG4, PTBP1, PTPRE, PXMP2, PYGB, RAB40B, RASGRP1, RBAK-RBAKDN, RBM33, RBM47, RFX2, RGMB, RGPD4, RHBDD3, RHPN2, RNF113B, RP11-1055B8.7, RP1L1, RPSAP58, RUNDC1, SAMD11, SCAP, SCARF2, SCNN1D, SDHB, SDK1, SERINC2, SERPING1, SGK223, SH3TC1, SIGLEC1, SIGLEC6, SLC16A2, SLC16A8, SLC22A24, SLC25A25, SLC25A5, SLC4A2, SLC9A7, SLFN13, SNX8, SOAT2, SORBS3, SORD, SPATA31A4, SPATA31A6, SPHK1, SPRR1A, SPRYD4, SPTBN4, SRP14, SRPX, STRA6, SYNM, TARSL2, TAS2R20, TBC1D26, TBC1D2B, TBC1D3H, TCF15, TCF19, TCF7, THAP11, TICRR, TIE1, TJP3, TMEM119, TMEM185B, TMEM63C, TNXB, TONSL, TOR1AIP1, TPRXL, TRBV6-6, TRBV6-7, TRBV7-3, TRGV4, TRIM58, TRIM6-TRIM34, TRPV3, TRPV4, TSKU, TUBB8P7, TYMP, UBC, UNK, UTF1, VAC14, VCX, WT1, WTIP, WWC3, ZCCHC3, ZDHHC19, ZFR2, ZNF112, ZNF135, ZNF155, ZNF221, ZNF223, ZNF233, ZNF283, ZNF284, ZNF30, ZNF319, ZNF320, ZNF397, ZNF404, ZNF419, ZNF443, ZNF468, ZNF469, ZNF470, ZNF534, ZNF568, ZNF577, ZNF578, ZNF585A, ZNF585B, ZNF600, ZNF611, ZNF614, ZNF615, ZNF677, ZNF697, ZNF701, ZNF714, ZNF717, ZNF765, ZNF790, ZNF835, ZNF85, ZNF850, ZNF880, ZSCAN22, ZSCAN25,

+ Genes associated with diseases 76

Genes at Omim

ABCA7, ABCG8, ACE, ADRA2C, ALDH4A1, AMH, ARHGEF18, ATP6AP1, ATXN2, CACNA1A, CACNA1H, CBS, CCDC151, CDAN1, CHRNA3, CLCN7, COG4, COG6, COL18A1, COL6A1, CRB2, CTSF, CTU2, CUX1, DRC1, FAM58A, GAD1, GCSH, GP6, GRIN2D, GYPB, HBG1, HLA-DQA1, HSD17B4, IDUA, IFITM3, IRF2BPL, IRF7, IRS2, ISPD, ITPR1, KLHL3, KY, LIPT2, LSS, MMP14, MMP21, MNX1, MUC5B, MYO9B, NDUFS7, NOTCH3, NTN1, NUP85, OTOF, PCDH12, PIK3R2, PITX1, PPA2, PRMT7, PRODH, RP1L1, SCARF2, SDHB, SLC16A2, SORD, SPTBN4, STRA6, TNXB, TOR1AIP1, TRPV3, TRPV4, TYMP, VAC14, WT1, ZNF469,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCG8 {Gallbladder disease 4}, 611465 (3)
Sitosterolemia, 210250 (3)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ADRA2C {Congestive heart failure and beta-blocker response, modifier of} (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP6AP1 Immunodeficiency 47, 300972 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CDAN1 Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
COG4 Congenital disorder of glycosylation, type IIj, 613489 (3)
Saul-Wilson syndrome, 618150 (3)
COG6 Congenital disorder of glycosylation, type IIl, 614576 (3)
Shaheen syndrome, 615328 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
CTSF Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CUX1 Global developmental delay with or without impaired intellectual development, 618330 (3)
DRC1 Ciliary dyskinesia, primary, 21, 615294 (3)
FAM58A STAR syndrome, 300707 (3)
GAD1 ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3)
GCSH ?Glycine encephalopathy, 605899 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HBG1 Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HSD17B4 D-bifunctional protein deficiency, 261515 (3)
Perrault syndrome 1, 233400 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
IRS2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
KY Myopathy, myofibrillar, 7, 617114 (3)
LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MNX1 Currarino syndrome, 176450 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NTN1 Mirror movements 4, 618264 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Liebenberg syndrome, 186550 (4)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (3)
PRMT7 Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SDHB Gastrointestinal stromal tumor, 606764 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 4, 115310 (3)
Pheochromocytoma, 171300 (3)
SLC16A2 Allan-Herndon-Dudley syndrome, 300523 (3)
SORD ?Cataract, congenital (2)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STRA6 Microphthalmia, isolated, with coloboma 8, 601186 (3)
Microphthalmia, syndromic 9, 601186 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TOR1AIP1 ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
VAC14 Striatonigral degeneration, childhood-onset, 617054 (3)
WT1 Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCG8, ACE, ADRA2C, ALDH4A1, AMH, ATXN2, CACNA1A, CBS, CCDC151, CDAN1, CLCN7, COG4, COG6, COL18A1, COL6A1, CRB2, CTSF, FAM58A, GAD1, GCSH, GP6, GYPB, HBG1, HSD17B4, IDUA, IRF7, ISPD, ITPR1, KLHL3, LSS, MMP14, MMP21, MNX1, NDUFS7, NOTCH3, OTOF, PIK3R2, PITX1, PRODH, RP1L1, SCARF2, SDHB, SERPING1, SLC16A2, STRA6, TNXB, TRPV3, TRPV4, TYMP, WT1, ZNF469,
ABCG8 Sitosterolemia
ACE Renal tubular dysgenesis
ACE serum levels
ADRA2C Beta-blocker response, association with
ALDH4A1 Hyperprolinemia, type II
AMH Persistent Mullerian duct syndrome, type I
ATXN2 Spinocerebellar ataxia 2
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CCDC151 Ciliary dyskinesia, primary,30
CDAN1 Anemia, dyserythropoietic congenital, type Ia
CLCN7 Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
COG4 Congenital disorder of glycosylation, type IIj
COG6 Congenital disorder of glycosylation, type Iil
COL18A1 Knobloch syndrome 1
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
CTSF Neuronal ceroid lipofuscinosis 13
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
GAD1 Cerebral palsy, spastic quadriplegic, 1
GCSH Glycine encephalopathy
GP6 Bleeding disorder, platelet-type, 11
GYPB Blood group, Ss
HBG1 Hereditary persistence of fetal hemoglobin
HSD17B4 Perrault syndrome
IDUA Mucopolysaccharidosis type I
IRF7 Immunodeficiency 39
ISPD Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KLHL3 Pseudohypoaldosteronism, type IID
LSS Cataract 44
MMP14 Winchester syndrome
MMP21 Heterotaxy, visceral, 7
MNX1 Currarino syndrome
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
OTOF Deafness, autosomal recessive 9
Neuropathy, autosomal recessive, 1
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
PRODH Hyperprolinemia, type I
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
SCARF2 Van den Ende-Gupta syndrome
SDHB Cowden-like syndrome
Paraganglioma and gastric stromal sarcoma
Gastrointestinal stromal tumor
Pheochromocytoma
Paragangliomas 4
SERPING1 Angioedema, hereditary
SLC16A2 Allan-Herndon-Dudley syndrome
STRA6 Microphthalmia, syndromic 9
Microphthalmia, isolated, with coloboma 8
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
WT1 Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 32730
Number of Genes: 414

Export to: CSV
  • Page 1 of 328

ABCA7
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 mmg003343 19 rs3752234
dbSNP Clinvar 		1047002 63.77 A G LowCoverage 0/1 8 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%

ABCG8
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 mmg003343 2 rs11887534
dbSNP Clinvar 		44066247 105.77 G C LowCoverage 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.06050 0.05422 0.03 0.53 None None None None None None ABCG8|0.174377842|39.74%

AC004899.1
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 mmg003343 7 rs7811518
dbSNP Clinvar 		48887797 51.74 T C LowCoverage 1/1 2 SYNONYMOUS_CODING LOW None 0.58946 0.58950 None None None None None None None
View mmg003343 7 rs6583469
dbSNP Clinvar 		48887827 59.28 A C LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.95887 0.95890 None None None None None None None

AC011500.1
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 mmg003343 19 rs1865091
dbSNP Clinvar 		39932066 257.78 T C LowCoverage 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.63998 0.64000 0.24 0.00 None None None None None None SUPT5H|0.226168272|33.75%

ACE
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 mmg003343 17 rs4330
dbSNP Clinvar 		61563661 81.28 C A LowCoverage 1/1 3 None None None 0.00539 0.46150 None None None None None None ACE|0.894558224|3.56%

ADAM11
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 mmg003343 17 rs8075210
dbSNP Clinvar 		42854610 128.9 T C LowCoverage 1/1 5 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%

ADAM15
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 mmg003343 1 rs6427128
dbSNP Clinvar 		155026942 60.28 A C LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.90196 0.90200 0.12771 0.51 0.00 None None None None None None ADAM15|0.077192579|55.85%

ADAMTS4
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 mmg003343 1 rs4233367
dbSNP Clinvar 		161163037 81.28 T C LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.39720 1.00 0.00 None None None None None None ADAMTS4|0.218094914|34.6%

ADAMTS7
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 mmg003343 15 rs2929155
dbSNP Clinvar 		79058013 58.28 C T LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.67013 0.67010 0.25344 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%

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 mmg003343 20 rs35105284
dbSNP Clinvar 		4228735 102.77 C T LowCoverage 0/1 9 SYNONYMOUS_CODING LOW None 0.20487 0.20490 0.22072 None None None None None None ADRA1D|0.152836614|42.55%

ADRA2C
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 mmg003343 4 . 3769295 79.73 AG... A LowCoverage 0/1 6 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.19968 0.28462 None None None None None None ADRA2C|0.032603753|68.35%
View mmg003343 4 rs181208952
dbSNP Clinvar 		3769266 111.77 G C LowCoverage 0/1 8 SYNONYMOUS_CODING LOW None 0.19669 0.19670 None None None None None None ADRA2C|0.032603753|68.35%

ADRBK1
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 mmg003343 11 rs2228418
dbSNP Clinvar 		67034266 129.9 C A LowCoverage 1/1 5 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGAP1
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 mmg003343 2 rs13014733
dbSNP Clinvar 		236579317 97.77 G A LowCoverage 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.19129 0.19130 0.12 0.00 None None None None None None AGAP1|0.457547319|17.79%

AGAP4
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 mmg003343 10 rs201179318
dbSNP Clinvar 		46321880 69.94 C T LowCoverage 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AGAP4|0.00701941|83.47%
View mmg003343 10 rs202104169
dbSNP Clinvar 		46321904 190.8 C T LowCoverage 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.04 1.00 None None None None None None AGAP4|0.00701941|83.47%
View mmg003343 10 rs781789106
dbSNP Clinvar 		46321555 68.03 G A LowCoverage 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None AGAP4|0.00701941|83.47%

AGAP7
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 mmg003343 10 rs4043622
dbSNP Clinvar 		51465920 51.94 G A LowCoverage 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.40375 0.40380 0.23 0.02 None None None None None None AGAP7P|0.001668593|92.02%

AGAP8
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 mmg003343 10 rs200027998
dbSNP Clinvar 		51225724 82.03 G C LowCoverage 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.37460 0.37460 0.03 0.96 None None None None None None None
View mmg003343 10 rs80103077
dbSNP Clinvar 		51225623 91.9 A G LowCoverage 1/1 5 SYNONYMOUS_CODING LOW None 0.82029 0.82030 None None None None None None None

AKAP13
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 mmg003343 15 rs2291049
dbSNP Clinvar 		86087309 257.78 T C LowCoverage 1/1 8 None None None 0.74421 0.74420 None None None None None None AKAP13|0.042148693|65.04%

AKR1CL1
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 mmg003343 10 rs2801889
dbSNP Clinvar 		5202104 141.84 C T LowCoverage 1/1 6 None None None 0.97764 0.97760 1.00 0.00 None None None None None None None

AL358113.1
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 mmg003343 9 rs3812536
dbSNP Clinvar 		71869473 240.78 G A LowCoverage 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.45667 0.45670 0.00 None None None None None None TJP2|0.24805836|31.7%

ALDH4A1
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 mmg003343 1 rs2230705
dbSNP Clinvar 		19203997 87.77 C G LowCoverage 0/1 9 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%

ALKBH7
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 mmg003343 19 rs77630001
dbSNP Clinvar 		6373749 137.84 G A LowCoverage 0/1 6 None None None 0.02736 0.02736 0.07 0.05 None None None None None None ALKBH7|0.02209928|73.12%

ALOX15B
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 mmg003343 17 rs4792147
dbSNP Clinvar 		7951819 196.8 A G LowCoverage 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.65036 0.65040 0.39520 0.46 0.00 None None None None None None ALOX15B|0.008183706|82.49%

ALPP
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 mmg003343 2 rs2853374
dbSNP Clinvar 		233244586 95.03 C G LowCoverage 1/1 4 SYNONYMOUS_CODING LOW None 0.94808 0.94810 0.05378 None None None None None None ALPP|0.999370882|0.37%

AMH
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 mmg003343 19 rs7252789
dbSNP Clinvar 		2251512 130.9 T A LowCoverage 1/1 5 SYNONYMOUS_CODING LOW None 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%

ANKRD24
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 mmg003343 19 rs58333777
dbSNP Clinvar 		4217587 107.9 G A LowCoverage 1/1 5 SYNONYMOUS_CODING LOW None 0.33387 0.33390 None None None None None None ANKRD24|0.006993334|83.48%

ANKRD36C
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 mmg003343 2 rs77710257
dbSNP Clinvar 		96525652 54.74 T C LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None ANKRD36C|0.001406745|93.3%

ANKRD53
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 mmg003343 2 rs57527165
dbSNP Clinvar 		71206267 75.77 G A LowCoverage 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.13419 0.13420 0.09103 0.06 0.40 None None None None None None ANKRD53|0.002518394|89.63%

ANKRD63
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 mmg003343 15 rs12440450
dbSNP Clinvar 		40573675 71.03 G T LowCoverage 1/1 4 SYNONYMOUS_CODING LOW None 0.32648 0.32650 None None None None None None PLCB2|0.161252195|41.37%,ANKRD63|0.046527849|63.73%
View mmg003343 15 rs4924446
dbSNP Clinvar 		40573716 52.74 A G LowCoverage 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.99701 0.99700 1.00 0.00 None None None None None None PLCB2|0.161252195|41.37%,ANKRD63|0.046527849|63.73%

APBA3
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 mmg003343 19 rs8102086
dbSNP Clinvar 		3752874 75.28 A G LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%

ARHGAP23
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 mmg003343 17 rs377612823
dbSNP Clinvar 		36614353 59.28 T C LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.14 0.77 None None None None None None ARHGAP23|0.124657713|46.71%

ARHGAP4
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 mmg003343 X rs2070097
dbSNP Clinvar 		153176254 173.84 A G LowCoverage 1/1 6 SYNONYMOUS_CODING LOW None 0.70490 0.70490 0.44202 None None None None None None ARHGAP4|0.028368935|70.27%

ARHGAP8
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 mmg003343 22 rs764288968
dbSNP Clinvar 		45182352 53.7 AGGC A LowCoverage 1/1 2 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%

ARHGEF18
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 mmg003343 19 rs9329368
dbSNP Clinvar 		7533850 130.77 A G LowCoverage 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%

ATG2A
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 mmg003343 11 rs656195
dbSNP Clinvar 		64677293 71.03 G C LowCoverage 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.99860 0.99860 0.00054 0.82 0.00 None None None None None None ATG2A|0.043961932|64.54%

ATP6AP1
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 mmg003343 X rs28497482
dbSNP Clinvar 		153657083 91.28 A G LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.89351 0.89350 0.09485 None None None None None None ATP6AP1|0.067534855|57.98%

ATRAID
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 mmg003343 2 rs1275533
dbSNP Clinvar 		27435250 58.28 A G LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.90435 0.90440 0.09753 0.80 0.00 None None None None None None SLC5A6|0.032338465|68.45%,ATRAID|0.090316044|53.17%

ATXN2
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 mmg003343 12 rs576709187
dbSNP Clinvar 		112035572 144.77 C T LowCoverage 0/1 7 None None None 0.00080 0.00080 0.00 None None None None None None ATXN2|0.872313714|4.16%
View mmg003343 12 rs695872
dbSNP Clinvar 		112036929 83.28 G A LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.44429 0.44430 None None None None None None ATXN2|0.872313714|4.16%
View mmg003343 12 rs695871
dbSNP Clinvar 		112037000 216.78 G C LowCoverage 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.44429 0.44430 0.41 0.00 None None None None None None ATXN2|0.872313714|4.16%

B3GNT6
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 mmg003343 11 rs34153015
dbSNP Clinvar 		76751587 159.77 G A LowCoverage 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.25579 0.25580 0.00 1.00 None None None None None None B3GNT6|0.006722766|83.81%

BMP6
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 mmg003343 6 rs111588693
dbSNP Clinvar 		7727271 123.03 G A LowCoverage 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.33986 0.33990 0.21 0.00 None None None None None None BMP6|0.889563802|3.68%

C15orf37
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 mmg003343 15 rs2733102
dbSNP Clinvar 		80215300 237.78 T C LowCoverage 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.34525 0.34520 0.29808 0.02 None None None None None None ST20-MTHFS|0.035556745|67.29%,ST20|0.002453922|89.79%,ST20-AS1|0.001584022|92.39%

C18orf25
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 mmg003343 18 rs34068795,rs397790301
dbSNP Clinvar 		43833701 53.7 T TCTG LowCoverage 1/1 2 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C1orf106
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 mmg003343 1 rs296520
dbSNP Clinvar 		200880978 153.9 C T LowCoverage 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.79193 0.79190 0.32171 0.21 0.00 None None None None None None C1orf106|0.047519924|63.46%

C1orf167
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 mmg003343 1 rs4846044
dbSNP Clinvar 		11839998 95.03 T C LowCoverage 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.87979 0.87980 1.00 0.00 None None None None None None C1orf167|0.000902211|96.01%

C21orf58
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 mmg003343 21 rs71318063,rs759135936,rs112899928,rs35902237
dbSNP Clinvar 		47721985 53.7 A ATGG LowCoverage 1/1 2 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.27596 0.27600 None None None None None None C21orf58|0.001829013|91.47%

C2CD2
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 mmg003343 21 rs3746906
dbSNP Clinvar 		43327856 71.03 A G LowCoverage 1/1 4 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%

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 mmg003343 19 rs11880097
dbSNP Clinvar 		47823871 56.03 G T LowCoverage 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.96945 0.96940 0.03245 0.50 0.03 None None None None None None C5AR1|0.017691217|75.49%

C7orf13
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 mmg003343 7 rs7788200
dbSNP Clinvar 		156433243 52.77 C G LowCoverage 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.33986 0.33990 0.31 0.00 None None None None None None LINC01006|0.000460586|98.63%,RNF32|0.018283419|75.12%

CACFD1
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 mmg003343 9 rs3124765
dbSNP Clinvar 		136328657 175.8 T C LowCoverage 1/1 7 SYNONYMOUS_CODING LOW None 0.00260 0.84110 0.20145 None None None None None None CACFD1|0.051141294|62.3%

CACNA1A
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 mmg003343 19 rs16054
dbSNP Clinvar 		13318672 169.73 CC... C LowCoverage 0/1 6 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%

CACNA1H
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 mmg003343 16 rs2407083
dbSNP Clinvar 		1252118 78.77 C T LowCoverage 0/1 9 SYNONYMOUS_CODING LOW None 0.08387 0.08387 0.07921 None None None None None None CACNA1H|0.025235592|71.7%

CAPN8
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 mmg003343 1 rs376165890
dbSNP Clinvar 		223711443 58.28 C T LowCoverage 1/1 3 None None None 0.02057 0.02057 None None None None None None CAPN8|0.042652474|64.89%

CASP4
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 mmg003343 11 rs9507
dbSNP Clinvar 		104819327 173.84 T C LowCoverage 1/1 6 SYNONYMOUS_CODING LOW None 0.94928 0.94930 0.05076 None None None None None None CASP4|0.002766016|89.1%

CASP9
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 mmg003343 1 rs1052571
dbSNP Clinvar 		15850613 130.9 G A LowCoverage 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.58467 0.58470 0.36 0.02 None None None None None None CASP9|0.380237916|22.03%

CASZ1
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 mmg003343 1 rs284294
dbSNP Clinvar 		10713765 171.84 T C LowCoverage 1/1 6 SYNONYMOUS_CODING LOW None 0.54513 0.54510 0.41310 None None None None None None CASZ1|0.585063144|12.36%

CBS
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 mmg003343 21 rs8132811
dbSNP Clinvar 		44475877 74.28 C T LowCoverage 1/1 3 None None None 0.19209 0.19210 None None None None None None CBS|0.170288794|40.28%

CBX4
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 mmg003343 17 rs754126884
dbSNP Clinvar 		77807917 81.73 T TG... LowCoverage 0/1 5 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.07301 None None None None None None CBX4|0.061366203|59.47%

CCDC151
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 mmg003343 19 rs34093
dbSNP Clinvar 		11542013 105.03 T C LowCoverage 1/1 4 None None None 0.92452 0.92450 None None None None None None CCDC151|0.006639685|83.91%

CCDC85A
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 mmg003343 2 rs35587531
dbSNP Clinvar 		56411817 97.03 C T LowCoverage 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.71366 0.71370 0.22 0.00 None None None None None None CCDC85A|0.289572159|28.38%

CCDC85C
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 mmg003343 14 rs8007401
dbSNP Clinvar 		100069742 82.28 G A LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.81749 0.81750 None None None None None None CCDC85C|0.125729045|46.53%

CDAN1
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 mmg003343 15 rs7167392
dbSNP Clinvar 		43028592 106.78 G A LowCoverage 0/1 5 SYNONYMOUS_CODING LOW None 0.26058 0.26060 0.26875 None None None None None None CDAN1|0.166826698|40.71%

CDHR5
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 mmg003343 11 rs2740380
dbSNP Clinvar 		617537 84.28 C T LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.48482 0.48480 0.44632 None None None None None None CDHR5|0.001225301|94.3%

CDK5RAP3
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 mmg003343 17 rs2905846
dbSNP Clinvar 		46048592 277.78 A G LowCoverage 1/1 9 MOTIF[MA0062.2:Gabp] LOW None 0.69149 0.69150 0.30004 0.00 None None None None None None CDK5RAP3|0.244591627|32.06%

CDRT1
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 mmg003343 17 rs76213106
dbSNP Clinvar 		15492410 165.77 G A LowCoverage 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.16074 0.16070 0.05 0.00 None None None None None None CDRT1|0.012808391|78.64%
View mmg003343 17 rs151442
dbSNP Clinvar 		15492409 315.78 T C LowCoverage 1/1 8 SYNONYMOUS_CODING LOW None 0.99381 0.99380 None None None None None None CDRT1|0.012808391|78.64%
View mmg003343 17 rs28445278
dbSNP Clinvar 		15492426 221.78 C T LowCoverage 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.67332 0.67330 0.13 0.02 None None None None None None CDRT1|0.012808391|78.64%

CECR6
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 mmg003343 22 rs5994165
dbSNP Clinvar 		17600977 57.28 G A LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.47684 0.47680 0.40580 None None None None None None CECR6|0.01816042|75.21%

CEP170
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 mmg003343 1 rs2631092
dbSNP Clinvar 		243354791 193.8 C T LowCoverage 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.84744 0.84740 1.00 0.00 None None None None None None CEP170|0.244807399|32.03%

CH17-132F21.1
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 mmg003343 2 rs796119898
dbSNP Clinvar 		90458594 51.28 T C LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None None None None None None None None

CHGA
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 mmg003343 14 rs729939
dbSNP Clinvar 		93399169 73.77 G A LowCoverage 0/1 7 SYNONYMOUS_CODING LOW None 0.05491 0.05491 0.00140 None None None None None None CHGA|0.117443288|47.87%

CHRD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmg003343 3 rs1920128
dbSNP Clinvar 		184098193 230.78 A C LowCoverage 1/1 9 SYNONYMOUS_CODING LOW None None None None None None None EIF2B5|0.736636231|7.47%,CHRD|0.912759797|3.17%

CHRNA3
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 mmg003343 15 rs66793222,rs143833222,rs60706203
dbSNP Clinvar 		78913067 82.73 ACAG A LowCoverage 0/1 5 CODON_DELETION MODERATE None None None None None None None CHRNA3|0.230381335|33.33%

CHTF18
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 mmg003343 16 rs117923274
dbSNP Clinvar 		847936 71.03 C T LowCoverage 1/1 4 SYNONYMOUS_CODING LOW None 0.05351 0.05351 0.02575 None None None None None None CHTF18|0.015143539|77.06%

CIRBP
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 mmg003343 19 rs4807050
dbSNP Clinvar 		1271529 58.28 C T LowCoverage 1/1 3 None None None 0.77875 0.77880 0.28127 0.01 0.00 None None None None None None CIRBP|0.027587711|70.62%

CLC
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 mmg003343 19 rs17608
dbSNP Clinvar 		40225646 57.28 G A LowCoverage 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.61362 0.61360 0.29779 0.68 0.00 None None None None None None CLC|0.000863861|96.26%

CLCN7
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 mmg003343 16 rs12923538
dbSNP Clinvar 		1509123 80.79 G A LowCoverage 0/1 5 SYNONYMOUS_CODING LOW None 0.12201 0.12200 0.15420 None None None None None None CLCN7|0.061996172|59.31%

CLIC6
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 mmg003343 21 rs7280973
dbSNP Clinvar 		36041978 91.03 A G LowCoverage 1/1 4 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%

CMPK1
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 mmg003343 1 rs7543016
dbSNP Clinvar 		47799639 55.77 G C LowCoverage 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.59645 0.59640 0.43093 0.89 0.00 None None None None None None CMPK1|0.426659425|19.29%

CNP
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 mmg003343 17 rs2070106
dbSNP Clinvar 		40125864 58.28 G A LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.27516 0.27520 0.24843 None None None None None None CNP|0.145097162|43.71%

CNTNAP3B
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 mmg003343 9 rs555608997
dbSNP Clinvar 		43828112 239.78 A G LowCoverage 1/1 9 SYNONYMOUS_CODING LOW None 0.25419 0.25420 None None None None None None CNTNAP3B|0.003821974|87.27%
View mmg003343 9 rs62538181
dbSNP Clinvar 		43915893 139.9 G C LowCoverage 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CNTNAP3B|0.003821974|87.27%

COG4
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 mmg003343 16 rs533161794
dbSNP Clinvar 		70514973 168.84 G C LowCoverage 1/1 6 SYNONYMOUS_CODING LOW None 0.00220 0.00220 None None None None None None COG4|0.386198811|21.66%

COG6
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 mmg003343 13 rs3812882
dbSNP Clinvar 		40229891 187.84 G A LowCoverage 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.48443 0.48440 0.43809 0.09 0.00 None None None None None None COG6|0.303873453|27.36%

COL14A1
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 mmg003343 8 rs4463470
dbSNP Clinvar 		121383048 241.78 T C LowCoverage 1/1 8 None None None 0.82668 0.82670 0.01 0.00 None None None None None None COL14A1|0.765229358|6.75%

COL18A1
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 mmg003343 21 rs77180157
dbSNP Clinvar 		46876717 84.77 G C LowCoverage 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.04792 0.04792 0.09 0.98 None None None None None None COL18A1|0.045578537|64.02%
View mmg003343 21 rs1131101
dbSNP Clinvar 		46899857 70.8 C T LowCoverage 0/1 6 SYNONYMOUS_CODING LOW None 0.15735 0.15730 0.13061 None None None None None None COL18A1|0.045578537|64.02%

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 mmg003343 19 rs3745584
dbSNP Clinvar 		10077419 185.78 C G LowCoverage 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.36621 0.36620 0.22519 1.00 0.00 None None None None None None COL5A3|0.039580114|65.88%

COL6A1
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 mmg003343 21 rs1053312
dbSNP Clinvar 		47423389 126.88 G A LowCoverage 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.27017 0.27020 0.33961 0.11 0.00 None None None None None None COL6A1|0.085741402|53.99%

CPXM2
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 mmg003343 10 rs1219725
dbSNP Clinvar 		125528048 54.74 G A LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.31309 None None None None None None CPXM2|0.079939383|55.19%

CRB2
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 mmg003343 9 rs10818812
dbSNP Clinvar 		126129904 99.77 C T LowCoverage 0/1 7 SYNONYMOUS_CODING LOW None 0.28395 0.28390 0.28493 None None None None None None CRB2|0.035723803|67.22%

CRCT1
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 mmg003343 1 rs1053588
dbSNP Clinvar 		152488063 59.28 C T LowCoverage 1/1 3 SYNONYMOUS_CODING LOW None 0.58506 0.58510 0.35984 None None None None None None CRCT1|0.008001198|82.64%

CTB-133G6.1
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 mmg003343 19 rs6603127
dbSNP Clinvar 		7448242 63.77 A G LowCoverage 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.47244 0.47240 0.00 None None None None None None None

CTSF
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 mmg003343 11 rs1044522
dbSNP Clinvar 		66335832 135.77 G A LowCoverage 0/1 8 SYNONYMOUS_CODING LOW None 0.20787 0.20790 None None None None None None CTSF|0.032488567|68.38%
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