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+ Genes 233

Genes:
ABAT, ABCA10, ABCA13, ABCC11, AC016757.3, AC024592.12, ACADS, ACAT2, ACSM1, ACSM2B, ADH4, AKNAD1, AL645922.1, ANKDD1A, ANKRD20A1, ANKRD30B, ANKRD30BL, ANKRD36, ANKRD36C, APBA3, APIP, APOBEC3H, AQP7, ARFGAP3, ARHGAP28, ARL2, ARSG, ASAH1, BRWD3, BTNL2, C10ORF68, C16orf71, C1orf204, C20orf96, C2orf76, C2orf80, C5AR1, C5orf45, C6orf100, C6orf222, C7orf25, C7orf63, CAMKK1, CCDC169-SOHLH2, CDH23, CDK11A, CDRT15, CENPU, CEP63, CHAF1A, CHAT, CHN2, CILP, CNTROB, COL21A1, COL5A3, COL7A1, CPOX, CR1, CROCC, CRTAM, CTC1, CYP20A1, CYP2A7, DBNDD2, DHODH, DKKL1, DLL3, DNAH10, DNAH14, DNAH3, DNAH9, DNPEP, ECT2L, EFCAB4A, EFS, EIF2A, EMG1, EMR1, EPHA1, EXD3, FAM129C, FBN2, FER1L6, FOCAD, FOLH1, FRG1B, FSTL4, GAGE12J, GALNTL5, GANC, GBP3, GLYATL2, GYPA, GYPE, HAP1, HEG1, HHLA1, HIF3A, HLA-A, HLA-B, HLA-C, HLA-DRB1, HMGXB3, HNF4G, ICAM3, IFI35, IGHA2, IGHD2-2, IGHV3-30, IGHV3-38, IGHV3-53, IGHV3-66, IGHV4-28, INO80D, IRAK3, ITGA2, ITGA8, ITGAL, JUP, KCNH2, KIAA0922, KIAA1731, KIR2DL3, KMT2C, KRT15, LALBA, LDLR, LGALS8, LILRA1, LILRB1, LILRB3, LILRB4, LMF2, LPIN3, LRP1, LRRK2, MAP2K3, MINK1, MRGPRF, MROH2B, MSH3, MTHFD1, MTX3, MUC13, MUC16, MUC19, MUC2, MUC3A, MYBPH, MYH15, MYO3A, MYOM1, MYOM2, NAAA, NBPF1, NBPF3, NDUFV3, NLE1, NLRP13, NOM1, NRCAM, NRK, NUP62CL, ORM1, OTOGL, PARPBP, PCK1, PDE4DIP, PER3, PIK3CD, PLA2G4D, PNPLA1, POMGNT1, PPAP2C, PPCDC, PRAME, PRODH2, PRSS3, PTF1A, PTPRJ, PTPRQ, RGPD4, RPAP1, RPGRIP1, RPUSD3, RRN3, S100A7L2, SAA1, SEC14L6, SENP7, SFTPB, SLC12A1, SLC15A5, SLC22A14, SLC4A1, SLU7, SRGAP2, STAB1, SYNRG, TAF1A, TBC1D2, TCOF1, TGM4, TMEFF2, TMPRSS11F, TNK1, TPCN2, TPR, TRAPPC8, TRBV3-1, TRIM69, TRPM4, TTC16, TTC40, TTN, UBA6, USP6, UTP20, UVSSA, VWA3B, WDR46, ZBBX, ZBP1, ZC3HAV1, ZDHHC11, ZNF177, ZNF286B, ZNF443, ZNF695, ZNF705G, ZNF717, ZSCAN5C,

+ Genes associated with diseases 58

Genes at Omim

ABAT, ABCC11, ACADS, ACAT2, AQP7, ARSG, ASAH1, BRWD3, BTNL2, CDH23, CEP63, CHAT, CILP, COL7A1, CPOX, CR1, CTC1, DHODH, DLL3, DNAH9, EMG1, FBN2, GYPA, HLA-A, HLA-B, HLA-C, HLA-DRB1, IRAK3, ITGA2, ITGA8, JUP, KCNH2, KMT2C, LDLR, LRP1, LRRK2, MSH3, MTHFD1, MYO3A, OTOGL, PCK1, PER3, PIK3CD, PNPLA1, POMGNT1, PTF1A, PTPRJ, PTPRQ, RPGRIP1, SFTPB, SLC12A1, SLC4A1, TCOF1, TPCN2, TRPM4, TTN, UVSSA, VWA3B,
ABAT GABA-transaminase deficiency, 613163 (3)
ABCC11 [Axillary odor, variation in], 117800 (3)
[Colostrum secretion, variation in], 117800 (3)
[Earwax, wet/dry], 117800 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
COL7A1 EBD inversa, 226600 (3)
EBD, Bart type, 132000 (3)
EBD, localisata variant (3)
Epidermolysis bullosa dystrophica, AD, 131750 (3)
Epidermolysis bullosa dystrophica, AR, 226600 (3)
Epidermolysis bullosa pruriginosa, 604129 (3)
Epidermolysis bullosa, pretibial, 131850 (3)
Toenail dystrophy, isolated, 607523 (3)
Transient bullous of the newborn, 131705 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CR1 CR1 deficiency (1)
{Malaria, severe, resistance to}, 611162 (3)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DHODH Miller syndrome, 263750 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KCNH2 {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
Long QT syndrome 2, 613688 (3)
Short QT syndrome 1, 609620 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PIK3CD Immunodeficiency 14, 615513 (3)
PNPLA1 Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SFTPB Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
SLC4A1 Cryohydrocytosis, 185020 (3)
Ovalocytosis, SA type, 166900 (3)
Renal tubular acidosis, distal, AD, 179800 (3)
Renal tubular acidosis, distal, AR, 611590 (3)
Spherocytosis, type 4, 612653 (3)
[Blood group, Diego], 110500 (3)
[Blood group, Froese], 601551 (3)
[Blood group, Swann], 601550 (3)
[Blood group, Waldner], 112010 (3)
[Blood group, Wright], 112050 (3)
[Malaria, resistance to], 611162 (3)
TCOF1 Treacher Collins syndrome 1, 154500 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TRPM4 Progressive familial heart block, type IB, 604559 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VWA3B ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)

Genes at Clinical Genomics Database

ABAT, ABCC11, ACADS, ASAH1, BRWD3, CDH23, CEP63, CHAT, COL7A1, CPOX, CR1, CTC1, DHODH, DLL3, EMG1, FBN2, GYPA, HLA-A, HLA-B, ITGA8, JUP, KCNH2, LDLR, LRP1, LRRK2, MSH3, MTHFD1, MYO3A, OTOGL, PER3, PIK3CD, PNPLA1, POMGNT1, PTF1A, PTPRQ, RPGRIP1, SFTPB, SLC12A1, SLC4A1, TCOF1, TPCN2, TRPM4, TTN, UVSSA, VWA3B,
ABAT GABA-transaminase deficiency
ABCC11 Apocrine gland secretion, variation in
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
BRWD3 Mental retardation, X-linked 93
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CEP63 Seckel syndrome 6
CHAT Myasthenic syndrome, congenital 6, presynaptic
COL7A1 Epidermolysis bullosa dystrophica, autosomal dominant
Epidermolysis bullosa dystrophica, autosomal recessive
Epidermolysis bullosa dystrophica inversia
Epidermolysis bullosa pruriginosa
Nail disorder, nonsyndromic congenital, 8
Epidermolysis bullosa dystrophica, Bart type
Epidermolysis bullosa, pretibial
Transient bullous dermolysis of the newborn
CPOX Coproporphyria
Harderoporphyria
CR1 Blood group, Knops system
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DLL3 Spondylocostal dysostosis 1, autosomal recessive
EMG1 Bowen-Conradi syndrome
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
GYPA Blood group, MN locus
Blood group, Erik
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
ITGA8 Renal agenesis, bilateral
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
KCNH2 Long QT syndrome 2
Short QT syndrome 1
LDLR Hypercholesterolemia, familial
LRP1 Schizophrenia
LRRK2 Parkinson disease 8
Dementia, Lewy body
MSH3 Endometrial carcinoma
MTHFD1 Severe combined immunodeficiency
MYO3A Deafness, autosomal recessive 30
OTOGL Deafness, autosomal recessive 84B
PER3 Advanced sleep phase syndrome, familial, 3
PIK3CD Immunodeficiency 14
PNPLA1 Ichthyosis, congenital, autosomal recessive 10
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
PTPRQ Deafness, autosomal recessive 84
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SFTPB Surfactant metabolism dysfunction, pulmonary 1
SLC12A1 Bartter syndrome, antenatal, type 1
SLC4A1 Spherocytosis, type 4
Ovalcytosis, Southeast Asian
Cryohydrocytosis
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, autosomal dominant
Renal tubular acidosis, distal, autosomal recessive
Blood group, Wright
Blood group, Waldner
Blood group, Diego
Blood group, Froese
Blood group, Swann
TCOF1 Treacher Collins syndrome 1
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TRPM4 Progressive familial heart block, type IB
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
UVSSA UV-sensitive syndrome 3
VWA3B Spinocerebellar ataxia, autosomal recessive 22

Genes at HGMD

Summary

Number of Variants: 254
Number of Genes: 233

Export to: CSV

ABAT
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 fpd-alg-mad-1230-3 16 rs1731017
dbSNP Clinvar 		8839954 3024.0 A G PASS 0/1 32 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.50080 0.50080 0.48599 0.61 0.00 None None None None None None ABAT|0.163825558|41.04%

ABCA10
Omim - GeneCards - NCBI
Options Individual Chr
 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 fpd-alg-mad-1230-3 17 rs11657804
dbSNP Clinvar 		67210992 7029.0 T C PASS 0/1 123 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.12 None None None None None None ABCA10|0.002179826|90.49%

ABCA13
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 fpd-alg-mad-1230-3 7 rs4917153
dbSNP Clinvar 		48506642 1395.0 A G PASS 0/1 87 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.23063 0.23060 0.17498 0.00 None None None None None None ABCA13|0.04721773|63.52%

ABCC11
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 fpd-alg-mad-1230-3 16 rs11863236
dbSNP Clinvar 		48250026 1430.0 G T PASS 0/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.12899 0.12900 0.14359 0.56 0.00 None None None None None None ABCC11|0.006558104|83.99%

AC016757.3
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 fpd-alg-mad-1230-3 2 rs7572392
dbSNP Clinvar 		239134138 5613.0 A C PASS 0/1 84 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.16873 0.16870 0.24 0.00 None None None None None None None

AC024592.12
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 fpd-alg-mad-1230-3 19 rs778971
dbSNP Clinvar 		5867748 10436.0 G T PASS 0/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63878 0.63880 0.46529 0.09 0.65 None None None None None None FUT5|0.001156471|94.68%

ACADS
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 fpd-alg-mad-1230-3 12 rs1799958
dbSNP Clinvar 		121176083 5737.0 G A PASS 0/1 52 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18231 0.18230 0.19683 0.01 0.44 None None None None None None ACADS|0.070436549|57.39%

ACAT2
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 fpd-alg-mad-1230-3 6 rs25683
dbSNP Clinvar 		160196343 11172.0 A G PASS 0/1 83 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36522 0.36520 0.45433 0.04 0.82 None None None None None None ACAT2|0.090493467|53.12%

ACSM1
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 fpd-alg-mad-1230-3 16 rs138039886
dbSNP Clinvar 		20638638 620.0 C T PASS 0/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00539 0.00539 0.00608 0.01 0.19 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%

ACSM2B
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 fpd-alg-mad-1230-3 16 rs9941182
dbSNP Clinvar 		20554582 733.0 T G VQSRTrancheSNP99.90to100.00 0/1 69 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None ACSM2B|0.005001118|85.81%

ADH4
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 fpd-alg-mad-1230-3 4 rs1126673
dbSNP Clinvar 		100045616 49780.0 C T PASS 1/1 216 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%

AKNAD1
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 fpd-alg-mad-1230-3 1 rs12060255
dbSNP Clinvar 		109377070 2373.0 C A PASS 0/1 85 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.13299 0.13300 0.13786 0.29 0.11 None None None None None None AKNAD1|0.003173142|88.35%

AL645922.1
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 fpd-alg-mad-1230-3 6 rs3891366
dbSNP Clinvar 		31973973 1264.0 G A PASS 1/1 26 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21725 0.21730 0.86 None None None None None None None

ANKDD1A
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 fpd-alg-mad-1230-3 15 rs34988193
dbSNP Clinvar 		65235776 986.0 A G PASS 0/1 79 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24621 0.24620 0.28673 0.00 0.96 None None None None None None ANKDD1A|0.020521915|73.92%

ANKRD20A1
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 fpd-alg-mad-1230-3 9 rs374389698
dbSNP Clinvar 		67934829 135.0 G A SnpCluster 0/1 245 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.29 0.02 None None None None None None ANKRD20A1|0.001623081|92.24%

ANKRD30B
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 fpd-alg-mad-1230-3 18 rs72873710
dbSNP Clinvar 		14780019 23152.0 G T PASS 0/1 312 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06 0.19 None None None None None None ANKRD30B|0.000995671|95.47%

ANKRD30BL
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 fpd-alg-mad-1230-3 2 rs201696527
dbSNP Clinvar 		132912341 6473.0 C T VQSRTrancheSNP99.90to100.00 0/1 434 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11 0.00 None None None None None None ANKRD30BL|0.00124875|94.17%

ANKRD36
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 fpd-alg-mad-1230-3 2 rs10194525
dbSNP Clinvar 		97877478 22809.0 G A PASS 0/1 285 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02 0.61 None None None None None None ANKRD36|0.001192347|94.46%

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 fpd-alg-mad-1230-3 2 rs4362598
dbSNP Clinvar 		96626292 18173.0 C T PASS 0/1 139 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.87 0.00 None None None None None None ANKRD36C|0.001406745|93.3%
View fpd-alg-mad-1230-3 2 rs74946480
dbSNP Clinvar 		96619688 11652.0 T G VQSRTrancheSNP99.90to100.00 0/1 266 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06 0.09 None None None None None None ANKRD36C|0.001406745|93.3%
View fpd-alg-mad-1230-3 2 rs62154594
dbSNP Clinvar 		96610921 239093.0 T G VQSRTrancheSNP99.90to100.00 0/1 1024 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.28 0.03 None None None None None None ANKRD36C|0.001406745|93.3%
View fpd-alg-mad-1230-3 2 rs76752473
dbSNP Clinvar 		96617155 98399.0 A G VQSRTrancheSNP99.90to100.00 0/1 528 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.14 0.01 None None None None None None ANKRD36C|0.001406745|93.3%

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 fpd-alg-mad-1230-3 19 rs55941146
dbSNP Clinvar 		3754338 1105.0 A C PASS 0/1 102 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.04533 0.04533 0.03956 0.00 1.00 None None None None None None APBA3|0.009354531|81.41%

APIP
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 fpd-alg-mad-1230-3 11 rs61734605
dbSNP Clinvar 		34916657 8265.0 C T PASS 0/1 128 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11462 0.11460 0.24946 0.07 0.09 None None None None None None APIP|0.209674362|35.61%

APOBEC3H
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 fpd-alg-mad-1230-3 22 rs139300
dbSNP Clinvar 		39497509 1515.0 A G PASS 1/1 8 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%

AQP7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 9 rs62542746
dbSNP Clinvar 		33385863 20937.0 G T PASS 0/1 147 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.01 None None None None None None AQP7|0.012677613|78.76%
View fpd-alg-mad-1230-3 9 rs74557595
dbSNP Clinvar 		33385287 4667.0 T C VQSRTrancheSNP99.90to100.00 0/1 176 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.15 0.00 None None None None None None AQP7|0.012677613|78.76%

ARFGAP3
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 fpd-alg-mad-1230-3 22 rs1018448
dbSNP Clinvar 		43206950 8716.0 A C PASS 1/1 61 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70188 0.70190 0.34669 0.79 0.00 None None None None None None ARFGAP3|0.023747491|72.32%

ARHGAP28
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 fpd-alg-mad-1230-3 18 rs141734364
dbSNP Clinvar 		6894888 1509.0 A T PASS 0/1 125 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00040 0.00040 0.00077 0.83 0.00 None None None None None None ARHGAP28|0.058067092|60.37%

ARL2
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 fpd-alg-mad-1230-3 11 rs664226
dbSNP Clinvar 		64789194 7563.0 T C PASS 0/1 51 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45767 0.45770 0.34562 1.00 0.00 None None None None None None ARL2|0.107780954|49.62%

ARSG
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 fpd-alg-mad-1230-3 17 rs1558876
dbSNP Clinvar 		66364691 1275.0 C G AltDepth 0/1 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.02 None None None None None None ARSG|0.038924858|66.13%

ASAH1
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 fpd-alg-mad-1230-3 8 rs1071645
dbSNP Clinvar 		17928811 7297.0 C T PASS 1/1 92 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None ASAH1|0.03988949|65.81%

BRWD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 X rs3122407
dbSNP Clinvar 		79943569 26213.0 T C PASS 1/1 60 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%

BTNL2
Omim - GeneCards - NCBI
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 fpd-alg-mad-1230-3 6 rs2076530
dbSNP Clinvar 		32363816 11579.0 T C PASS 0/1 124 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38698 0.38700 0.39699 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%

C10ORF68
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 10 rs4448627
dbSNP Clinvar 		33123824 72576.0 G C PASS 1/1 235 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98363 0.98360 0.01772 1.00 0.00 None None None None None None None

C16orf71
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 fpd-alg-mad-1230-3 16 rs859310
dbSNP Clinvar 		4787987 3042.0 G A PASS 1/1 19 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.52816 0.52820 0.44344 0.55 0.00 None None None None None None C16orf71|0.001288696|93.97%
View fpd-alg-mad-1230-3 16 rs2075469
dbSNP Clinvar 		4794873 7290.0 C T PASS 1/1 53 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55152 0.55150 0.40049 0.02 0.31 None None None None None None C16orf71|0.001288696|93.97%

C1orf204
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 1 rs2501340
dbSNP Clinvar 		159824967 15564.0 G C PASS 1/1 64 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.93111 0.93110 0.10075 1.00 0.00 None None None None None None C1orf204|0.004343057|86.55%,VSIG8|0.077707151|55.73%

C20orf96
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 20 rs3827147
dbSNP Clinvar 		256727 5539.0 T A PASS 0/1 81 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None C20orf96|0.00266282|89.34%

C2orf76
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 2 rs1132267
dbSNP Clinvar 		120078778 58782.0 T C PASS 1/1 308 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.65555 0.65560 0.29676 0.72 0.02 None None None None None None C2orf76|0.21195474|35.37%

C2orf80
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 2 rs10804166
dbSNP Clinvar 		209036712 32120.0 T C PASS 1/1 138 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.85683 0.85680 0.10988 0.11 0.01 None None None None None None C2orf80|0.034135289|67.74%

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 fpd-alg-mad-1230-3 19 rs4467185
dbSNP Clinvar 		47823038 8517.0 G A PASS 1/1 46 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96945 0.96940 0.03260 0.24 0.00 None None None None None None C5AR1|0.017691217|75.49%

C5orf45
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 5 rs1650893
dbSNP Clinvar 		179280379 8184.0 T C PASS 1/1 37 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.34507 1.00 0.00 None None None None None None C5orf45|0.001770546|91.6%

C6orf100
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 fpd-alg-mad-1230-3 6 rs2071790
dbSNP Clinvar 		28911802 7568.0 G A PASS 1/1 41 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.67772 0.67770 1.00 0.00 None None None None None None LINC01556|0.000396706|98.97%

C6orf222
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 fpd-alg-mad-1230-3 6 rs148840710
dbSNP Clinvar 		36293191 196.0 C T PASS 0/1 23 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00008 0.60 0.08 None None None None None None C6orf222|0.001542596|92.56%

C7orf25
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 7 rs647117
dbSNP Clinvar 		42951515 1535.0 G A PASS 1/1 12 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63039 0.63040 0.07 0.00 None None None None None None C7orf25|0.170413051|40.26%

C7orf63
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 fpd-alg-mad-1230-3 7 rs1134956
dbSNP Clinvar 		89938680 8648.0 C T PASS 0/1 127 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38059 0.38060 0.49745 0.00 1.00 None None None None None None CFAP69|0.131174602|45.73%

CAMKK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 17 rs7214723
dbSNP Clinvar 		3775848 3996.0 T C PASS 0/1 32 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.39537 0.39540 0.35307 0.05 0.01 None None None None None None CAMKK1|0.110934351|49.01%

CCDC169-SOHLH2
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 fpd-alg-mad-1230-3 13 rs146943613
dbSNP Clinvar 		36822743 1593.0 G A PASS 0/1 143 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00499 0.00499 0.00438 0.00 0.03 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%

CDH23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 10 rs3802719
dbSNP Clinvar 		73270982 7072.0 G A PASS 1/1 56 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.72524 0.72520 0.26035 0.65 0.00 None None None None None None CDH23|0.499757104|15.83%

CDK11A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 1 rs1059830
dbSNP Clinvar 		1650797 34853.0 A G SnpCluster 0/1 191 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None CDK11A|0.02662445|71.07%

CDRT15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 17 rs4791565
dbSNP Clinvar 		14139891 21962.0 A C PASS 1/1 71 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02157 0.96900 0.18 0.00 None None None None None None CDRT15|0.000811376|96.58%

CENPU
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 4 rs902174
dbSNP Clinvar 		185655171 972.0 C T PASS 1/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33726 0.33730 0.19143 0.28 0.15 None None None None None None CENPU|0.009477958|81.29%

CEP63
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 3 rs1127826
dbSNP Clinvar 		134278270 5391.0 C T PASS 0/1 102 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.32708 0.32710 0.26734 0.71 0.00 None None None None None None CEP63|0.16402888|41.02%

CHAF1A
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 fpd-alg-mad-1230-3 19 rs9352
dbSNP Clinvar 		4442336 4250.0 C T PASS 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.56789 0.56790 0.48109 0.05 0.07 None None None None None None CHAF1A|0.043730551|64.6%

CHAT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 10 rs4838544
dbSNP Clinvar 		50856652 6386.0 G A PASS 1/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96645 0.96650 0.03898 1.00 0.00 None None None None None None CHAT|0.652613184|10%

CHN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 7 rs245881
dbSNP Clinvar 		29186576 5948.0 A G PASS 1/1 37 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.83227 0.83230 0.68 0.00 None None None None None None CPVL|0.069415572|57.61%,CHN2|0.513485273|15.21%

CILP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 15 rs2073711
dbSNP Clinvar 		65494212 7692.0 A G PASS 1/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.49661 0.49660 0.36379 0.10 0.00 None None None None None None CILP|0.25593882|31.04%

CNTROB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 17 rs11650083
dbSNP Clinvar 		7847955 4981.0 C A PASS 1/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.60463 0.60460 0.46394 0.37 0.01 None None None None None None CNTROB|0.086163509|53.91%

COL21A1
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 fpd-alg-mad-1230-3 6 rs35471617
dbSNP Clinvar 		56033094 2698.0 G A PASS 0/1 142 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07248 0.07248 0.05469 0.11 0.53 None None None None None None COL21A1|0.234742821|32.96%

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 fpd-alg-mad-1230-3 19 rs2161468
dbSNP Clinvar 		10088271 7405.0 C G PASS 0/1 131 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.35024 0.35020 0.38990 1.00 0.00 None None None None None None COL5A3|0.039580114|65.88%
View fpd-alg-mad-1230-3 19 rs2287803
dbSNP Clinvar 		10112346 35667.0 T C PASS 1/1 153 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.92971 0.92970 0.02391 0.66 0.00 None None None None None None COL5A3|0.039580114|65.88%

COL7A1
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 fpd-alg-mad-1230-3 3 rs35761247
dbSNP Clinvar 		48623124 1265.0 G A PASS 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02276 0.02276 0.04006 0.02 1.00 None None None None None None COL7A1|0.131554772|45.68%

CPOX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 3 rs1131857
dbSNP Clinvar 		98307696 9585.0 T G PASS 0/1 145 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24581 0.24580 0.23835 0.07 0.52 None None None None None None CPOX|0.108402411|49.49%

CR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 1 rs2296160
dbSNP Clinvar 		207795320 52203.0 A G PASS 1/1 197 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.82808 0.82810 0.18299 0.87 0.00 None None None None None None CR1|0.004291335|86.61%

CROCC
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 fpd-alg-mad-1230-3 1 rs114863724
dbSNP Clinvar 		17275018 366.0 C A PASS 0/1 30 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01897 0.01897 0.02946 1.00 None None None None None None CROCC|0.082326199|54.7%

CRTAM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 11 rs2272094
dbSNP Clinvar 		122738261 9948.0 A G PASS 0/1 101 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55032 0.55030 0.37848 1.00 0.01 None None None None None None CRTAM|0.009908361|80.92%

CTC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 17 rs3826543
dbSNP Clinvar 		8132763 2411.0 T C PASS 1/1 11 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.66354 0.66350 0.19913 1.00 0.00 None None None None None None CTC1|0.030020163|69.4%

CYP20A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 2 rs2043449
dbSNP Clinvar 		204116690 21129.0 C T PASS 1/1 103 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.86941 0.86940 0.11187 0.38 0.00 None None None None None None CYP20A1|0.211713855|35.4%

CYP2A7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 19 rs10425176
dbSNP Clinvar 		41387656 2430.0 A T PASS 0/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.51817 0.51820 0.20 0.00 None None None None None None CYP2A7|0.002245783|90.29%

DBNDD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 20 rs1127497
dbSNP Clinvar 		44038574 4192.0 A G PASS 1/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76118 0.76120 0.16398 1.00 0.00 None None None None None None DBNDD2|0.078431837|55.57%

DHODH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 16 rs3213422
dbSNP Clinvar 		72042682 3208.0 A C PASS 1/1 53 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.56410 0.56410 0.45535 0.19 0.01 None None None None None None DHODH|0.325470662|25.78%

DKKL1
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 fpd-alg-mad-1230-3 19 rs2303759
dbSNP Clinvar 		49869051 3847.0 T G PASS 1/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.31829 0.31830 0.27249 0.00 0.10 None None None None None None DKKL1|0.011993172|79.25%

DLL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 19 rs1110627
dbSNP Clinvar 		39994711 2628.0 T C PASS 1/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.62999 0.63000 0.40989 1.00 0.00 None None None None None None DLL3|0.048875309|62.99%

DNAH10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 12 rs10846559
dbSNP Clinvar 		124274474 12570.0 A G PASS 0/1 81 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.83786 0.83790 0.26941 1.00 0.00 None None None None None None DNAH10|0.023863488|72.27%

DNAH14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 1 rs3128658
dbSNP Clinvar 		225273248 26731.0 G T PASS 0/1 211 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70208 0.70210 0.17487 0.27 0.08 None None None None None None DNAH14|0.006049116|84.53%

DNAH3
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 fpd-alg-mad-1230-3 16 rs146094160
dbSNP Clinvar 		21123123 770.0 C A PASS 0/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00060 0.00060 0.00231 0.19 0.00 None None None None None None DNAH3|0.103253609|50.56%

DNAH9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 17 rs17612861
dbSNP Clinvar 		11835331 3577.0 G A PASS 0/1 102 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21006 0.21010 0.24958 0.07 0.25 None None None None None None DNAH9|0.176098085|39.51%

DNPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 2 rs907679
dbSNP Clinvar 		220250147 7389.0 A G PASS 1/1 35 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 0.00008 0.71 0.00 None None None None None None DNPEP|0.133178118|45.42%

ECT2L
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 fpd-alg-mad-1230-3 6 rs1529151
dbSNP Clinvar 		139197609 7334.0 G A PASS 0/1 188 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27616 0.27620 0.26691 0.30 0.00 None None None None None None ECT2L|0.046595352|63.71%

EFCAB4A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 11 rs28558789
dbSNP Clinvar 		829539 6805.0 A G PASS 0/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.66554 0.66550 0.33928 1.00 0.00 None None None None None None CRACR2B|0.008716499|81.94%

EFS
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 fpd-alg-mad-1230-3 14 rs2231798
dbSNP Clinvar 		23830042 635.0 T C PASS 0/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45567 0.45570 0.45788 1.00 0.00 None None None None None None EFS|0.076247181|56.02%

EIF2A
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 fpd-alg-mad-1230-3 3 rs1132979
dbSNP Clinvar 		150280445 14888.0 C G PASS 0/1 110 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.35423 0.35420 0.29295 0.40 0.00 None None None None None None SERP1|0.278844346|29.22%,EIF2A|0.317332726|26.28%

EMG1
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 fpd-alg-mad-1230-3 12 rs17857448
dbSNP Clinvar 		7080212 49857.0 T C PASS 1/1 132 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None EMG1|0.122491052|47.03%

EMR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 19 rs2228539
dbSNP Clinvar 		6926378 6922.0 T C PASS 1/1 41 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.31969 0.31970 0.37929 0.79 0.00 None None None None None None ADGRE1|0.00211453|90.69%

EPHA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 7 rs6967117
dbSNP Clinvar 		143088867 7091.0 T C PASS 1/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96026 0.96030 0.07712 1.00 0.00 None None None None None None EPHA1|0.09868361|51.45%

EXD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 9 rs7389423
dbSNP Clinvar 		140250818 10538.0 C T PASS 1/1 48 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.92073 0.92070 0.10805 1.00 0.00 None None None None None None EXD3|0.002541663|89.59%

FAM129C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 19 rs8107859
dbSNP Clinvar 		17648350 4979.0 T C PASS 1/1 26 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.90096 0.90100 0.02124 1.00 0.00 None None None None None None FAM129C|0.003613266|87.58%

FBN2
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 fpd-alg-mad-1230-3 5 rs146849637
dbSNP Clinvar 		127782297 1383.0 C T PASS 0/1 97 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00100 0.00100 0.00292 0.45 0.98 None None None None None None FBN2|0.394987399|21.09%

FER1L6
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 fpd-alg-mad-1230-3 8 rs7012186
dbSNP Clinvar 		125076589 9737.0 T G PASS 1/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.77336 0.77340 0.15575 1.00 0.00 None None None None None None FER1L6|0.120888602|47.29%

FOCAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 9 rs4977881
dbSNP Clinvar 		20988426 19793.0 A G PASS 0/1 100 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76857 0.76860 0.25704 1.00 0.00 None None None None None None FOCAD|0.402062048|20.62%
View fpd-alg-mad-1230-3 9 rs10511687
dbSNP Clinvar 		20764870 4118.0 T C PASS 0/1 108 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.28095 0.28100 0.35084 0.98 0.00 None None None None None None FOCAD|0.402062048|20.62%

FOLH1
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 fpd-alg-mad-1230-3 11 rs202676
dbSNP Clinvar 		49227620 18132.0 A G PASS 1/1 205 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38638 0.38640 0.32566 0.13 0.00 None None None None None None FOLH1|0.065976588|58.36%

FRG1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 20 rs60081496
dbSNP Clinvar 		29633900 23587.0 A G VQSRTrancheSNP99.90to100.00 0/1 878 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21 0.16 None None None None None None FRG1B|0.009509512|81.26%

FSTL4
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 fpd-alg-mad-1230-3 5 rs754762709
dbSNP Clinvar 		132560842 692.0 G A PASS 0/1 49 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07 0.86 None None None None None None FSTL4|0.091818612|52.85%

GAGE12J
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 fpd-alg-mad-1230-3 X rs7064530
dbSNP Clinvar 		49179755 103032.0 G A VQSRTrancheSNP99.90to100.00 1/1 484 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36689 0.36690 0.35475 0.12 0.47 None None None None None None GAGE12J|0.000833405|96.48%

GALNTL5
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 fpd-alg-mad-1230-3 7 rs6960270
dbSNP Clinvar 		151680072 20406.0 T C PASS 1/1 93 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.80112 0.80110 0.18069 0.00 1.00 None None None None None None GALNTL5|0.001268389|94.06%

GANC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 15 rs8043515
dbSNP Clinvar 		42568547 31766.0 C G PASS 1/1 103 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.95447 0.95450 0.02061 0.00 None None None None None None GANC|0.071251222|57.16%

GBP3
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 fpd-alg-mad-1230-3 1 rs113490655
dbSNP Clinvar 		89478868 3242.0 G A PASS 0/1 118 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.13498 0.13500 0.14193 0.04 0.61 None None None None None None GBP3|0.004390085|86.5%

GLYATL2
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 fpd-alg-mad-1230-3 11 rs11229651
dbSNP Clinvar 		58602309 695.0 C T PASS 0/1 39 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33347 0.33350 0.20998 0.84 0.00 None None None None None None GLYATL2|0.000328807|99.31%