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+ Genes 254

Genes:
ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ADAM21, AHSA1, AK7, AKAP5, AKAP6, ALKBH1, AP1G2, APEX1, ARHGEF40, ARID4A, ASB2, ATG14, ATG2B, ATL1, ATXN3, BAZ1A, BCL11B, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, C14orf105, C14orf159, C14orf177, C14orf178, C14orf37, C14orf39, C14orf79, C14orf93, CATSPERB, CCDC176, CDC42BPB, CDCA4, CDH24, CDKL1, CEP128, CHGA, CHMP4A, CINP, CKB, CMA1, COCH, CPNE6, CTAGE5, DACT1, DAD1, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DHRS4, DHRS4L2, DLGAP5, DLK1, DYNC1H1, EDDM3A, EDDM3B, EFCAB11, ELMSAN1, EML1, ESRRB, EXD2, EXOC3L4, FAM177A1, FAM181A, FANCM, FBLN5, FBXO34, FERMT2, FITM1, FLRT2, FLVCR2, FOS, FOXA1, FRMD6, FSCB, GALC, GEMIN2, GOLGA5, GPR65, GSTZ1, GZMB, GZMH, HEATR4, HECTD1, HSP90AA1, HSPA2, IFT43, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, JDP2, KCNH5, KCNK10, KHNYN, KLHDC1, KLHL28, L2HGDH, L3HYPDH, LGALS3, LGMN, LRFN5, LRRC16B, LTB4R, LTBP2, MAP3K9, MARK3, MBIP, MDGA2, METTL3, MGAT2, MIA2, MLH3, MMP14, MRPL52, MTA1, MTHFD1, MYH7, NDUFB1, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NOXRED1, NRDE2, OR10G2, OR10G3, OR11G2, OR11H12, OR11H6, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4L1, OR4N2, OR4Q3, OR5AU1, OR6S1, OSGEP, OTUB2, OXA1L, PACS2, PAPLN, PARP2, PAX9, PCK2, PCNX, PELI2, PNN, POMT2, POTEG, PPP1R13B, PPP1R36, PRIMA1, PRKCH, PRKD1, PSEN1, PSME2, RBM23, REC8, RIN3, RNASE3, RNASE6, RNASE7, RNASE8, RNASE9, RPS6KL1, RTN1, SALL2, SAMD15, SCFD1, SEC23A, SERPINA1, SERPINA10, SERPINA11, SERPINA3, SERPINA5, SERPINA6, SERPINA9, SIPA1L1, SIX4, SIX6, SLC10A1, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC8A3, SLIRP, SNW1, SNX6, SOS2, SPTB, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, TBPL2, TC2N, TECPR2, TEP1, TMEM179, TMEM260, TMEM30B, TMX1, TNFAIP2, TOX4, TRAF3, TRIM9, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTLL5, TXNDC16, UNC79, VRK1, VRTN, VSX2, WARS, WDHD1, WDR25, XRCC3, ZC2HC1C, ZFYVE21, ZFYVE26,

+ Genes associated with diseases 59

Genes at Omim

AK7, ATL1, ATXN3, BCL11B, BRF1, COCH, DACT1, DDHD1, DYNC1H1, EML1, ESRRB, FANCM, FBLN5, FLVCR2, GALC, GSTZ1, IFT43, INF2, IRF2BPL, L2HGDH, LTBP2, MARK3, MGAT2, MLH3, MMP14, MTHFD1, MYH7, NEK9, NFKBIA, NIN, OSGEP, PACS2, PAX9, PCK2, POMT2, PRKCH, PRKD1, PSEN1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX6, SLC24A4, SLC7A7, SOS2, SPTB, SPTLC2, SYNE2, TECPR2, TMEM260, TRAF3, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZFYVE26,
AK7 ?Spermatogenic failure 27, 617965 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BCL11B Immunodeficiency 49, 617237 (3)
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
DACT1 ?Townes-Brocks syndrome 2, 617466 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1 Band heterotopia, 600348 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FANCM ?Premature ovarian failure 15, 618096 (3)
Spermatogenic failure 28, 618086 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43 ?Cranioectodermal dysplasia 3, 614099 (3)
?Retinitis pigmentosa 81, 617871 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MARK3 ?Visual impairment and progressive phthisis bulbi, 618283 (3)
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9 Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN ?Seckel syndrome 7, 614851 (3)
OSGEP Galloway-Mowat syndrome 3, 617729 (3)
PACS2 Epileptic encephalopathy, early infantile, 66, 618067 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1 Congenital heart defects and ectodermal dysplasia, 617364 (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)
SALL2 ?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3 Alpha-1-antichymotrypsin deficiency (3)
Cerebrovascular disease, occlusive (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC24A4 Amelogenesis imperfecta, type IIA5, 615887 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SOS2 Noonan syndrome 9, 616559 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRMT5 Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
TTLL5 Cone-rod dystrophy 19, 615860 (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ATL1, ATXN3, BRF1, COCH, DYNC1H1, ESRRB, FANCM, FBLN5, FLVCR2, GALC, IFT43, INF2, L2HGDH, LTBP2, MGAT2, MLH3, MMP14, MTHFD1, MYH7, NFKBIA, NIN, PAX9, POMT2, PSEN1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX6, SLC24A4, SLC7A7, SOS2, SPTB, SYNE2, TECPR2, TRAF3, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZFYVE26,
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BRF1 Cerebellofaciodental syndrome
COCH Deafness, autosomal dominant 9
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FANCM Fanconi anemia type M
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC Krabbe disease
IFT43 Cranioectodermal dysplasia 3
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MGAT2 Congenital disorder of glycosylation, type IIa
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN Seckel syndrome 7
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PSEN1 Cardiomyopathy, dilated 1U
SALL2 Ocular coloboma
SEC23A Craniolenticulosutural dysplasia
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SOS2 Noonan syndrome 9
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TECPR2 Spastic paraplegia 49, autosomal recessive
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRMT5 Combined oxidative phosphorylation deficiency 26
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 540
Number of Genes: 254

Export to: CSV

ABHD12B
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 na12878 recessive 14 rs34800262
dbSNP Clinvar 		51370852 6302.35 C G PASS 0/1 278 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11901 0.11900 0.08988 0.04 0.12 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%

ABHD4
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 na12878 recessive 14 rs72677597
dbSNP Clinvar 		23078810 3061.15 A T PASS 0/1 176 SYNONYMOUS_CODING LOW SILENT 0.10723 0.10720 0.12348 None None None None None None ABHD4|0.265560662|30.22%

ACIN1
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 na12878 recessive 14 rs3811182
dbSNP Clinvar 		23549785 10623.1 T C PASS 0/1 513 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50080 0.50080 0.49300 0.54 0.00 None None None None None None ACIN1|0.717450786|8.04%
View na12878 recessive 14 rs60168438
dbSNP Clinvar 		23530622 2770.18 T C PASS 0/1 182 SYNONYMOUS_CODING LOW SILENT 0.24501 0.24500 0.25119 None None None None None None ACIN1|0.717450786|8.04%
View na12878 recessive 14 rs941719
dbSNP Clinvar 		23549379 5963.55 C G FDRtranche1.00to10.00+ 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99960 0.99960 0.00338 1.00 0.00 None None None None None None ACIN1|0.717450786|8.04%
View na12878 recessive 14 rs1885097
dbSNP Clinvar 		23549319 1810.8 A G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42832 0.42830 0.44526 0.13 0.00 None None None None None None ACIN1|0.717450786|8.04%

ACOT1
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 na12878 recessive 14 rs200918215
dbSNP Clinvar 		74004406 18.85 T G ESPStandard;HARD_TO_VALIDATE;LowQual 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.09 None None None None None None HEATR4|0.005039419|85.75%,ACOT1|0.012166346|79.11%

ACOT2
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 na12878 recessive 14 rs149033118
dbSNP Clinvar 		74041748 51.04 A G PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 None None None None None None ACOT2|0.010972761|80.08%
View na12878 recessive 14 rs7494
dbSNP Clinvar 		74042189 852.73 A G PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00 None None None None None None ACOT2|0.010972761|80.08%

ACOT4
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 na12878 recessive 14 rs3742819
dbSNP Clinvar 		74058832 342.29 C T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None ACOT4|0.025540514|71.55%
View na12878 recessive 14 rs2010070
dbSNP Clinvar 		74061968 9117.21 T C PASS 1/1 230 SYNONYMOUS_CODING LOW SILENT 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%

ACOT6
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 na12878 recessive 14 rs17782052
dbSNP Clinvar 		74086415 2095.81 G A PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02356 0.02356 0.06297 1.00 0.00 None None None None None None ACOT6|0.10045383|51.07%

ADAM21
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 na12878 recessive 14 rs58247196
dbSNP Clinvar 		70924450 929.21 C T FDRtranche1.00to10.00+ 0/1 128 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAM21|0.009866102|80.97%
View na12878 recessive 14 rs3751523
dbSNP Clinvar 		70924462 3597.55 A G PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View na12878 recessive 14 rs8010994
dbSNP Clinvar 		70924501 2303.98 C G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%
View na12878 recessive 14 rs3751524
dbSNP Clinvar 		70924507 1243.98 A C PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAM21|0.009866102|80.97%
View na12878 recessive 14 rs12436346
dbSNP Clinvar 		70925257 1365.1 A G PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View na12878 recessive 14 rs72735759
dbSNP Clinvar 		70924602 2737.52 T G PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.26 None None None None None None ADAM21|0.009866102|80.97%
View na12878 recessive 14 rs72735760
dbSNP Clinvar 		70925501 3799.93 G C PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01757 0.01757 0.03621 0.32 0.06 None None None None None None ADAM21|0.009866102|80.97%

AHSA1
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 na12878 recessive 14 rs1061629
dbSNP Clinvar 		77926011 14904.6 C T PASS 0/1 663 SYNONYMOUS_CODING LOW SILENT 0.47444 0.47440 0.39497 None None None None None None AHSA1|0.497086001|15.98%
View na12878 recessive 14 rs1061638
dbSNP Clinvar 		77928525 4203.11 A G PASS 0/1 230 SYNONYMOUS_CODING LOW SILENT 0.62380 0.62380 0.40228 None None None None None None AHSA1|0.497086001|15.98%
View na12878 recessive 14 rs7250
dbSNP Clinvar 		77935520 2090.56 G A PASS 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.47943 0.47940 0.40112 None None None None None None AHSA1|0.497086001|15.98%

AK7
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 na12878 recessive 14 rs2369679
dbSNP Clinvar 		96922752 6836.94 C G PASS 0/1 305 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88459 0.88460 0.12940 1.00 0.00 None None None None None None AK7|0.025423977|71.6%

AKAP5
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 na12878 recessive 14 rs1256149
dbSNP Clinvar 		64935720 7237.96 C T PASS 1/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98383 0.98380 0.00008 1.00 0.00 None None None None None None ZBTB25|0.303467452|27.4%,AKAP5|0.028809341|70%

AKAP6
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 na12878 recessive 14 rs7150894
dbSNP Clinvar 		33015014 3136.13 G A PASS 0/1 171 SYNONYMOUS_CODING LOW SILENT 0.72863 0.72860 0.25211 None None None None None None AKAP6|0.906075509|3.33%
View na12878 recessive 14 rs1950703
dbSNP Clinvar 		33046388 8799.24 A G PASS 0/1 381 SYNONYMOUS_CODING LOW SILENT 0.86641 0.86640 0.18937 None None None None None None AKAP6|0.906075509|3.33%

ALKBH1
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 na12878 recessive 14 rs6494
dbSNP Clinvar 		78140355 2437.18 T A PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11861 0.11860 0.17500 0.48 0.00 None None None None None None ALKBH1|0.129415095|45.95%
View na12878 recessive 14 rs6493
dbSNP Clinvar 		78140329 2222.84 G A PASS 0/1 162 SYNONYMOUS_CODING LOW SILENT 0.09006 0.09006 0.13555 None None None None None None ALKBH1|0.129415095|45.95%

AP1G2
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 na12878 recessive 14 rs12897422
dbSNP Clinvar 		24033027 818.46 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04353 0.04353 0.10118 0.00 0.94 None None None None None None AP1G2|0.168221463|40.55%

APEX1
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 na12878 recessive 14 rs1130409
dbSNP Clinvar 		20925154 807.58 T G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37560 0.37560 0.43557 1.00 0.00 None None None None None None APEX1|0.756632015|6.94%

ARHGEF40
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 na12878 recessive 14 rs55901089
dbSNP Clinvar 		21555481 109.4 G A PASS 0/1 6 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00140 0.00140 0.00440 0.00 0.96 None None None None None None ARHGEF40|0.101019692|50.98%
View na12878 recessive 14 rs7143633
dbSNP Clinvar 		21549893 63.07 G C PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78035 0.78040 0.15060 1.00 0.00 None None None None None None ARHGEF40|0.101019692|50.98%
View na12878 recessive 14 rs1958395
dbSNP Clinvar 		21551058 12236.8 G A PASS 1/1 296 SYNONYMOUS_CODING LOW SILENT 0.54473 0.54470 0.40881 None None None None None None ARHGEF40|0.101019692|50.98%
View na12878 recessive 14 rs1958396
dbSNP Clinvar 		21551069 11104.9 T C PASS 1/1 258 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85923 0.85920 0.07573 0.42 0.00 None None None None None None ARHGEF40|0.101019692|50.98%

ARID4A
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 na12878 recessive 14 rs1051861
dbSNP Clinvar 		58838701 4215.94 C T PASS 1/1 101 SYNONYMOUS_CODING LOW SILENT 0.53195 0.53190 0.47801 None None None None None None ARID4A|0.332925405|25.26%
View na12878 recessive 14 rs17832939
dbSNP Clinvar 		58820568 3995.49 T C PASS 0/1 214 SYNONYMOUS_CODING LOW SILENT 0.01558 0.01558 0.03260 None None None None None None ARID4A|0.332925405|25.26%
View na12878 recessive 14 rs1051860
dbSNP Clinvar 		58838668 5142.47 A G PASS 1/1 131 SYNONYMOUS_CODING LOW SILENT 0.53914 0.53910 0.46971 None None None None None None ARID4A|0.332925405|25.26%

ASB2
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 na12878 recessive 14 rs7147919
dbSNP Clinvar 		94417421 1590.64 G A PASS 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.55511 0.55510 0.44126 None None None None None None ASB2|0.131824124|45.65%
View na12878 recessive 14 rs4277287
dbSNP Clinvar 		94417541 1898.7 A G PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT 0.81190 0.81190 0.16239 None None None None None None ASB2|0.131824124|45.65%
View na12878 recessive 14 rs4483793
dbSNP Clinvar 		94417586 1409.76 G A PASS 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.58007 0.58010 0.41404 None None None None None None ASB2|0.131824124|45.65%
View na12878 recessive 14 rs10873442
dbSNP Clinvar 		94405871 2062.6 G C PASS 1/1 48 SYNONYMOUS_CODING LOW SILENT 0.80391 0.80390 0.15394 None None None None None None ASB2|0.131824124|45.65%

ATG14
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 na12878 recessive 14 rs8003279
dbSNP Clinvar 		55864130 2249.97 A G PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.20867 0.20870 0.26296 None None None None None None ATG14|0.1555867|42.19%

ATG2B
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 na12878 recessive 14 rs72704878
dbSNP Clinvar 		96772059 4740.81 T A PASS 0/1 264 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00100 0.00446 0.44 0.00 None None None None None None ATG2B|0.10842436|49.47%
View na12878 recessive 14 rs9323945
dbSNP Clinvar 		96781912 4838.75 T C PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90655 0.90650 0.00711 1.00 0.00 None None None None None None ATG2B|0.10842436|49.47%
View na12878 recessive 14 rs1822372
dbSNP Clinvar 		96797724 8713.85 G A PASS 1/1 203 SYNONYMOUS_CODING LOW SILENT 0.84405 0.84400 0.02101 None None None None None None ATG2B|0.10842436|49.47%
View na12878 recessive 14 rs12434329
dbSNP Clinvar 		96829290 3961.01 G A PASS 1/1 94 SYNONYMOUS_CODING LOW SILENT 0.47943 0.47940 0.39793 None None None None None None ATG2B|0.10842436|49.47%
View na12878 recessive 14 rs72706804
dbSNP Clinvar 		96829302 1770.76 C T PASS 0/1 102 SYNONYMOUS_CODING LOW SILENT 0.00759 0.00759 0.01664 None None None None None None ATG2B|0.10842436|49.47%
View na12878 recessive 14 rs2289622
dbSNP Clinvar 		96771959 6191.37 A G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89357 0.89360 0.02122 0.99 0.00 None None None None None None ATG2B|0.10842436|49.47%
View na12878 recessive 14 rs72704870
dbSNP Clinvar 		96761823 1893.93 T C PASS 0/1 142 SYNONYMOUS_CODING LOW SILENT 0.00160 0.00160 0.00093 None None None None None None ATG2B|0.10842436|49.47%
View na12878 recessive 14 rs3759601
dbSNP Clinvar 		96777468 17270.0 G C PASS 0/1 755 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24980 0.24980 0.33746 0.90 0.00 None None None None None None ATG2B|0.10842436|49.47%

ATL1
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 na12878 recessive 14 rs1060197
dbSNP Clinvar 		51057727 7793.3 G A PASS 1/1 186 SYNONYMOUS_CODING LOW SILENT 0.82149 0.82150 0.20414 None None None None None None ATL1|0.525719843|14.74%

ATXN3
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 na12878 recessive 14 rs12896589
dbSNP Clinvar 		92537388 449.12 T C ESPStandard;SnpCluster 0/1 25 SYNONYMOUS_CODING LOW SILENT None None None None None None ATXN3|0.681306976|9.03%
View na12878 recessive 14 rs12896588
dbSNP Clinvar 		92537387 485.67 T G SnpCluster 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None ATXN3|0.681306976|9.03%
View na12878 recessive 14 rs12896583
dbSNP Clinvar 		92537379 1118.69 T C SnpCluster 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None ATXN3|0.681306976|9.03%
View na12878 recessive 14 rs16999141
dbSNP Clinvar 		92549586 2788.16 G A PASS 0/1 157 SYNONYMOUS_CODING LOW SILENT 0.56669 0.56670 0.45840 None None None None None None ATXN3|0.681306976|9.03%

BAZ1A
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 na12878 recessive 14 rs2275145
dbSNP Clinvar 		35242828 4187.67 G A PASS 0/1 246 SYNONYMOUS_CODING LOW SILENT 0.51538 0.51540 0.49431 None None None None None None BAZ1A|0.477260471|16.88%
View na12878 recessive 14 rs17102745
dbSNP Clinvar 		35263983 3188.04 T C PASS 0/1 165 SYNONYMOUS_CODING LOW SILENT 0.11582 0.11580 0.10080 None None None None None None BAZ1A|0.477260471|16.88%

BCL11B
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 na12878 recessive 14 rs74649889
dbSNP Clinvar 		99640905 128.1 G A PASS 1/1 4 SYNONYMOUS_CODING LOW SILENT 0.02316 0.02316 0.04394 None None None None None None BCL11B|0.583326338|12.44%
View na12878 recessive 14 . 99642187 10.43 C T ESPStandard;LowQual 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.09 None None None None None None BCL11B|0.583326338|12.44%
View na12878 recessive 14 rs1152783
dbSNP Clinvar 		99642360 77.62 C G PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT 0.24820 0.24820 0.16451 None None None None None None BCL11B|0.583326338|12.44%

BCL2L2-PABPN1
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 na12878 recessive 14 rs2231301
dbSNP Clinvar 		23777099 1823.57 G A PASS 1/1 48 SYNONYMOUS_CODING LOW SILENT 0.24900 0.24900 0.17871 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%
View na12878 recessive 14 rs910332
dbSNP Clinvar 		23777374 1715.54 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00231 0.54 0.00 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%

BDKRB1
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 na12878 recessive 14 rs2071084
dbSNP Clinvar 		96730142 2372.14 A G PASS 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.83427 0.83430 0.13125 None None None None None None BDKRB1|0.016704422|76.07%

BDKRB2
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 na12878 recessive 14 rs5224
dbSNP Clinvar 		96707457 6247.7 A G PASS 0/1 340 SYNONYMOUS_CODING LOW SILENT 0.85903 0.85900 0.11748 None None None None None None BDKRB2|0.06104553|59.58%

BEGAIN
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 na12878 recessive 14 rs12892571
dbSNP Clinvar 		101005236 351.37 A G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.64417 0.64420 0.44482 None None None None None None BEGAIN|0.056726964|60.75%
View na12878 recessive 14 rs12893951
dbSNP Clinvar 		101005215 440.48 T C PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.65096 0.65100 0.43214 None None None None None None BEGAIN|0.056726964|60.75%

BRF1
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 na12878 recessive 14 rs28406206
dbSNP Clinvar 		105688082 417.25 C T PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.04892 0.04892 0.08486 None None None None None None BRF1|0.023675116|72.34%

BTBD6
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 na12878 recessive 14 rs61740085
dbSNP Clinvar 		105716574 1514.65 C T PASS 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.00439 0.00439 0.01031 None None None None None None BRF1|0.023675116|72.34%,BTBD6|0.036822903|66.86%

C14orf105
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 na12878 recessive 14 rs1152530
dbSNP Clinvar 		57938260 2221.96 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89357 0.89360 0.11133 0.16 0.03 None None None None None None C14orf105|0.032046883|68.59%
View na12878 recessive 14 rs1152531
dbSNP Clinvar 		57938124 12287.7 C T PASS 1/1 283 SYNONYMOUS_CODING LOW SILENT 0.66594 0.66590 0.41904 None None None None None None C14orf105|0.032046883|68.59%

C14orf159
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 na12878 recessive 14 rs4900071
dbSNP Clinvar 		91636395 8298.06 C T PASS 1/1 203 SYNONYMOUS_CODING LOW SILENT 0.16713 0.16710 0.27741 None None None None None None C14orf159|0.005784406|84.85%
View na12878 recessive 14 rs4900072
dbSNP Clinvar 		91636532 1532.35 C T PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16713 0.16710 0.27741 1.00 0.00 None None None None None None C14orf159|0.005784406|84.85%
View na12878 recessive 14 rs34424078
dbSNP Clinvar 		91681888 4988.73 G A PASS 0/1 253 SYNONYMOUS_CODING LOW SILENT 0.08247 0.08247 0.06543 None None None None None None C14orf159|0.005784406|84.85%

C14orf177
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 na12878 recessive 14 rs4905757
dbSNP Clinvar 		99182626 2590.72 T C PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02097 0.02097 0.03814 0.25 0.37 None None None None None None C14orf177|0.000297765|99.42%

C14orf178
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 na12878 recessive 14 rs8015313
dbSNP Clinvar 		78234796 1196.03 C T PASS 0/1 57 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.12001 0.12000 0.17433 0.42 0.25 None None None None None None C14orf178|0.003786167|87.32%

C14orf37
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 na12878 recessive 14 rs11626667
dbSNP Clinvar 		58604850 2747.71 A C PASS 0/1 166 SYNONYMOUS_CODING LOW SILENT 0.02536 0.02536 0.03875 None None None None None None C14orf37|0.012467911|78.91%

C14orf39
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 na12878 recessive 14 rs11625921
dbSNP Clinvar 		60923783 4074.51 C T PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 0.02015 0.21 0.00 None None None None None None C14orf39|0.111454646|48.96%

C14orf79
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 na12878 recessive 14 rs894039
dbSNP Clinvar 		105461067 6574.42 C T PASS 1/1 159 SYNONYMOUS_CODING LOW SILENT 0.74481 0.74480 0.18722 None None None None None None C14orf79|0.001191967|94.47%

C14orf93
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 na12878 recessive 14 rs3829409
dbSNP Clinvar 		23467664 653.97 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08147 0.08147 0.08085 0.02 0.02 None None None None None None C14orf93|0.28600913|28.65%

CATSPERB
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 na12878 recessive 14 rs1296082
dbSNP Clinvar 		92088016 14535.4 G A PASS 1/1 333 SYNONYMOUS_CODING LOW SILENT 0.80032 0.80030 0.28856 None None None None None None CATSPERB|0.003317836|88.04%
View na12878 recessive 14 rs1620238
dbSNP Clinvar 		92084004 6669.9 C G PASS 1/1 132 SYNONYMOUS_CODING LOW SILENT 0.80112 0.80110 0.28687 None None None None None None CATSPERB|0.003317836|88.04%

CCDC176
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 na12878 recessive 14 rs3742808
dbSNP Clinvar 		74523949 3200.61 G A PASS 0/1 224 SYNONYMOUS_CODING LOW SILENT 0.30052 0.30050 0.23828 None None None None None None CCDC176|0.078509852|55.53%,ALDH6A1|0.408047315|20.3%
View na12878 recessive 14 rs3742809
dbSNP Clinvar 		74523869 5207.1 A G PASS 0/1 276 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24161 0.24160 0.17677 0.74 0.00 None None None None None None CCDC176|0.078509852|55.53%,ALDH6A1|0.408047315|20.3%

CDC42BPB
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 na12878 recessive 14 rs8009219
dbSNP Clinvar 		103440473 6747.19 G C PASS 1/1 133 SYNONYMOUS_CODING LOW SILENT 0.00080 0.00080 0.41173 None None None None None None CDC42BPB|0.042098|65.08%

CDCA4
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 na12878 recessive 14 rs3803294
dbSNP Clinvar 		105478102 6024.78 G A PASS 1/1 141 SYNONYMOUS_CODING LOW SILENT 0.41893 0.41890 0.46263 None None None None None None CDCA4|0.005169669|85.62%

CDH24
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 na12878 recessive 14 rs11623976
dbSNP Clinvar 		23518918 598.72 T C PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.11661 0.11660 0.17815 None None None None None None CDH24|0.171918773|40.07%

CDKL1
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 na12878 recessive 14 rs9323183
dbSNP Clinvar 		50796881 5596.33 G C PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01997 0.01997 0.04875 0.02 0.49 None None None None None None ATP5S|0.070283776|57.43%,CDKL1|0.112865284|48.69%

CEP128
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 na12878 recessive 14 rs327463
dbSNP Clinvar 		81251255 7141.52 T C PASS 0/1 357 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33227 0.33230 0.35807 0.20 0.89 None None None None None None CEP128|0.262274825|30.55%

CHGA
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 na12878 recessive 14 rs941581
dbSNP Clinvar 		93401178 875.84 A G PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.79533 0.79530 0.26915 None None None None None None CHGA|0.117443288|47.87%
View na12878 recessive 14 rs9658669
dbSNP Clinvar 		93399081 600.73 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00023 0.06 0.10 None None None None None None CHGA|0.117443288|47.87%
View na12878 recessive 14 rs729939
dbSNP Clinvar 		93399169 243.19 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.05491 0.05491 0.00140 None None None None None None CHGA|0.117443288|47.87%

CHMP4A
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 na12878 recessive 14 rs2295322
dbSNP Clinvar 		24679877 15631.0 C T PASS 1/1 362 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35124 0.35120 0.43618 0.02 0.95 None None None None None None TM9SF1|0.265346103|30.26%,CHMP4A|0.156422304|42.1%

CINP
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 na12878 recessive 14 rs7011
dbSNP Clinvar 		102815042 2026.95 C T PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16494 0.16490 0.23312 0.16 0.01 None None None None None None CINP|0.019000581|74.67%
View na12878 recessive 14 rs7012
dbSNP Clinvar 		102814945 2163.5 G A PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT 0.26398 0.26400 0.24450 None None None None None None CINP|0.019000581|74.67%

CKB
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 na12878 recessive 14 rs1136165
dbSNP Clinvar 		103988180 102.64 G T PASS 0/1 8 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.65775 0.65770 0.36631 None None None None None None CKB|0.155239483|42.26%
View na12878 recessive 14 rs1803283
dbSNP Clinvar 		103986255 819.23 C T PASS 0/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.63898 0.63900 0.41609 None None None None None None CKB|0.155239483|42.26%

CMA1
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 na12878 recessive 14 rs5247
dbSNP Clinvar 		24976574 2331.03 T C PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00839 0.00839 0.01522 0.02 0.11 None None None None None None CMA1|0.012757297|78.68%
View na12878 recessive 14 rs5249
dbSNP Clinvar 		24975435 8046.14 G T PASS 1/1 212 SYNONYMOUS_CODING LOW SILENT 0.92712 0.92710 0.06951 None None None None None None CMA1|0.012757297|78.68%

COCH
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 na12878 recessive 14 rs1045644
dbSNP Clinvar 		31355096 16682.6 C G PASS 1/1 346 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41134 0.41130 0.48801 0.61 0.00 None None None None None None COCH|0.517420317|15.09%

CPNE6
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 na12878 recessive 14 rs2070343
dbSNP Clinvar 		24543808 7746.05 G C PASS 0/1 327 SYNONYMOUS_CODING LOW SILENT 0.26697 0.26700 0.15178 None None None None None None CPNE6|0.117493176|47.84%