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Genes at Omim

ABAT, APOL2, AQP7, ASAH1, BRWD3, CCDC151, CDH23, CHAT, CILP, CPA6, CR1, CTC1, DHODH, DLL3, DNAH11, DNAH9, EMG1, F2, GCKR, HLA-DRB1, HMMR, IRAK3, ITGA2, ITGA8, KIF4A, LAMC3, LRP1, LRP8, LRRK2, MMP9, MSH3, MUTYH, MYO3A, NME8, OTOGL, POMGNT1, PTF1A, PTPRQ, SI, SLC12A1, SYNE1, TNNT2, TPCN2, TTN, UVSSA, VWA3B, ZFYVE26,
ABAT GABA-transaminase deficiency, 613163 (3)
APOL2 {Schizophrenia}, 181500 (1)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (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)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CPA6 Febrile seizures, familial, 11, 614418 (3)
Epilepsy, familial temporal lobe, 5, 614417 (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)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
F2 Hypoprothrombinemia, 613679 (3)
Dysprothrombinemia, 613679 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
Thrombophilia due to thrombin defect, 188050 (3)
GCKR [Fasting plasma glucose level QTL 5], 613463 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HMMR {Breast cancer, susceptibility to}, 114480 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MUTYH Adenomas, multiple colorectal, 608456 (3)
Gastric cancer, somatic, 613659 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (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)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
TNNT2 Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Left ventricular noncompaction 6, 601494 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VWA3B ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABAT, ASAH1, BRWD3, CCDC151, CDH23, CHAT, CPA6, CR1, CTC1, DHODH, DLL3, DNAH11, EMG1, F2, ITGA8, KIF4A, LAMC3, LRP1, LRRK2, MMP9, MSH3, MUTYH, MYO3A, NME8, OTOGL, PKHD1, POMGNT1, PTF1A, PTPRQ, SI, SLC12A1, SYNE1, TNNT2, TPCN2, TTN, UVSSA, VWA3B, ZFYVE26,
ABAT GABA-transaminase deficiency
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
BRWD3 Mental retardation, X-linked 93
CCDC151 Ciliary dyskinesia, primary,30
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CHAT Myasthenic syndrome, congenital 6, presynaptic
CPA6 Febrile seizures, familial, 11
Epilepsy, familial temporal lobe, 5
CR1 Blood group, Knops system
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNAH11 Ciliary dyskinesia, primary, 7
EMG1 Bowen-Conradi syndrome
F2 Prothrombin deficiency, congenital
Thrombophilia due to thrombin defect
ITGA8 Renal agenesis, bilateral
KIF4A Mental retardation, X-linked 100
LAMC3 Cortical malformations, occipital
LRP1 Schizophrenia
LRRK2 Parkinson disease 8
Dementia, Lewy body
MMP9 Metaphyseal anadysplasia 2
MSH3 Endometrial carcinoma
MUTYH Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
MYO3A Deafness, autosomal recessive 30
NME8 Ciliary dyskinesia, primary, 6
OTOGL Deafness, autosomal recessive 84B
PKHD1 Polycystic kidney disease, autosomal recessive
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
SI Sucrase-isomaltase deficiency, congenital
SLC12A1 Bartter syndrome, antenatal, type 1
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
TNNT2 Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, dilated, 1D
Left ventricular noncompaction 6
Cardiomyopathy, familial hypertrophic, 2
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
UVSSA UV-sensitive syndrome 3
VWA3B Spinocerebellar ataxia, autosomal recessive 22
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 190
Number of Genes: 180

Export to: CSV

ABAT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 16 rs1731017
dbSNP Clinvar
8839954 925.77 A G PASS 1/1 26 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%

ABCA13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 7 rs4917153
dbSNP Clinvar
48506642 589.77 A G PASS 0/1 39 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%

ABCC10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 6 rs2125739
dbSNP Clinvar
43412865 1153.77 T C PASS 0/1 71 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20008 0.20010 0.27603 0.52 0.00 None None None None None None ABCC10|0.125839341|46.49%

AC016757.3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 2 rs7572392
dbSNP Clinvar
239134138 734.77 A C PASS 0/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.16873 0.16870 0.24 0.00 None None None None None None None

AC079354.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 2 rs10197514
dbSNP Clinvar
202964517 417.77 G C PASS 0/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.12340 0.12340 0.20 0.01 None None None None None None None

ADH4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 4 rs1126673
dbSNP Clinvar
100045616 106.77 C T PASS 0/1 6 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%

ANKDD1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 15 rs34988193
dbSNP Clinvar
65235776 459.77 A G PASS 0/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24621 0.24620 0.28673 0.00 0.98 None None None None None None ANKDD1A|0.020521915|73.92%

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 lfl38 snp 2 rs76752473
dbSNP Clinvar
96617155 147.03 A G PASS 1/1 4 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.14 0.16 None None None None None None ANKRD36C|0.001406745|93.3%
View lfl38 snp 2 rs62154594
dbSNP Clinvar
96610921 1064.77 T G PASS 0/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.28 0.41 None None None None None None ANKRD36C|0.001406745|93.3%

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 lfl38 snp 11 rs61734605
dbSNP Clinvar
34916657 275.77 C T PASS 0/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11462 0.11460 0.24946 0.07 0.05 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 lfl38 snp 22 rs139300
dbSNP Clinvar
39497509 628.77 A G PASS 1/1 18 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%

APOL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 22 rs5995267
dbSNP Clinvar
36633107 612.77 C A PASS 0/1 30 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07987 0.07987 0.00 0.23 None None None None None None APOL2|0.000262519|99.56%

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 lfl38 snp 9 rs62542746
dbSNP Clinvar
33385863 50.77 G T PASS 0/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.01 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 lfl38 snp 22 rs1018448
dbSNP Clinvar
43206950 475.77 A C PASS 0/1 25 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%

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 lfl38 snp 11 rs664226
dbSNP Clinvar
64789194 91.28 T C PASS 1/1 3 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45767 0.45770 0.34562 1.00 0.00 None None None None None None ARL2|0.107780954|49.62%

ASAH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 8 rs1071645
dbSNP Clinvar
17928811 30.77 C T PASS 0/1 6 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%

AXDND1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 1 rs11577579
dbSNP Clinvar
179414105 266.77 A C PASS 0/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21286 0.21290 0.29785 0.19 0.00 None None None None None None AXDND1|0.018165173|75.2%

BCAS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 20 rs394732
dbSNP Clinvar
52675188 309.78 G T PASS 1/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.57608 0.57610 0.46033 1.00 0.00 None None None None None None BCAS1|0.015654771|76.67%

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 lfl38 snp X rs3122407
dbSNP Clinvar
79943569 867.77 T C PASS 1/1 23 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%

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 lfl38 snp 10 rs4448627
dbSNP Clinvar
33123824 932.77 G C PASS 1/1 26 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 lfl38 snp 16 rs2075469
dbSNP Clinvar
4794873 208.77 C T PASS 0/1 14 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55152 0.55150 0.40049 0.02 0.31 None None None None None None C16orf71|0.001288696|93.97%
View lfl38 snp 16 rs859310
dbSNP Clinvar
4787987 370.77 G A PASS 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.52816 0.52820 0.44344 0.55 0.00 None None None None None None C16orf71|0.001288696|93.97%

C1orf204

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 1 rs2501340
dbSNP Clinvar
159824967 1403.77 G C PASS 0/1 118 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 lfl38 snp 20 rs3827147
dbSNP Clinvar
256727 899.77 T A PASS 1/1 26 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%

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 lfl38 snp 2 rs10804166
dbSNP Clinvar
209036712 646.77 T C PASS 1/1 21 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 lfl38 snp 19 rs4467185
dbSNP Clinvar
47823038 1359.77 G A PASS 1/1 40 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96945 0.96940 0.03260 0.24 0.50 None None None None None None C5AR1|0.017691217|75.49%

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 lfl38 snp 7 rs647117
dbSNP Clinvar
42951515 696.77 G A PASS 1/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63039 0.63040 0.07 0.00 None None None None None None C7orf25|0.170413051|40.26%

CAMKK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 17 rs7214723
dbSNP Clinvar
3775848 1928.77 T C PASS 1/1 57 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.39537 0.39540 0.35307 0.05 0.19 None None None None None None CAMKK1|0.110934351|49.01%

CAPN14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 2 rs1465972
dbSNP Clinvar
31411184 694.77 C A PASS 0/1 39 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33027 0.33030 0.27289 0.02 0.41 None None None None None None CAPN14|0.013270833|78.32%

CCDC151

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 19 rs35061520
dbSNP Clinvar
11537603 792.77 G A PASS 0/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00759 0.00759 0.02206 0.08 0.16 None None None None None None CCDC151|0.006639685|83.91%

CD109

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 6 rs10455097
dbSNP Clinvar
74493432 478.77 A C PASS 1/1 14 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.51558 0.51560 0.44364 1.00 0.00 None None None None None None CD109|0.035884994|67.17%

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 lfl38 snp 10 rs3802719
dbSNP Clinvar
73270982 1245.77 G A PASS 1/1 28 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 lfl38 snp 1 rs1059830
dbSNP Clinvar
1650797 1096.77 A G PASS 0/1 56 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None CDK11A|0.02662445|71.07%

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 lfl38 snp 4 rs902174
dbSNP Clinvar
185655171 853.77 C T PASS 0/1 97 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33726 0.33730 0.19143 0.28 0.00 None None None None None None CENPU|0.009477958|81.29%

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 lfl38 snp 19 rs9352
dbSNP Clinvar
4442336 368.77 C T PASS 0/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.56789 0.56790 0.48109 0.05 0.64 -0.30 0.01 0.23129 T 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 lfl38 snp 10 rs4838544
dbSNP Clinvar
50856652 439.77 G A PASS 1/1 12 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96645 0.96650 0.03898 1.00 0.01 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 lfl38 snp 7 rs245881
dbSNP Clinvar
29186576 2588.77 A G PASS 1/1 75 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 lfl38 snp 15 rs2073711
dbSNP Clinvar
65494212 252.77 A G PASS 0/1 12 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%

CNTLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 9 rs3808795
dbSNP Clinvar
17273731 180.77 A G PASS 0/1 18 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33427 0.33430 0.28424 1.00 0.00 4.28 None None None None None None CNTLN|0.534626587|14.4%

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 lfl38 snp 17 rs11650083
dbSNP Clinvar
7847955 924.77 C A PASS 1/1 28 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.60463 0.60460 0.46394 0.37 0.28 None None None None None None CNTROB|0.086163509|53.91%

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 lfl38 snp 19 rs2161468
dbSNP Clinvar
10088271 517.77 C G PASS 0/1 46 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.35024 0.35020 0.38990 0.05 None None None None None None COL5A3|0.039580114|65.88%
View lfl38 snp 19 rs2287803
dbSNP Clinvar
10112346 2226.77 T C PASS 1/1 64 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.92971 0.92970 0.02391 0.00 None None None None None None COL5A3|0.039580114|65.88%

CPA6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 8 rs17343819
dbSNP Clinvar
68396915 610.77 T C PASS 0/1 38 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07907 0.07907 0.12410 0.35 0.00 None None None None None None CPA6|0.268380229|29.99%

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 lfl38 snp 1 rs2296160
dbSNP Clinvar
207795320 353.77 A G PASS 0/1 24 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%

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 lfl38 snp 17 rs3826543
dbSNP Clinvar
8132763 360.77 T C PASS 0/1 30 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%

CUL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 10 rs61749171
dbSNP Clinvar
35322199 214.77 C T PASS 0/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00220 0.00220 0.00446 0.99 0.95 None None None None None None CUL2|0.862197848|4.44%

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 lfl38 snp 2 rs2043449
dbSNP Clinvar
204116690 853.77 C T PASS 1/1 23 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.86941 0.86940 0.11187 0.38 0.01 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 lfl38 snp 19 rs10425176
dbSNP Clinvar
41387656 191.9 A T PASS 1/1 5 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.51817 0.51820 0.20 0.00 None None None None None None CYP2A7|0.002245783|90.29%

CYP2D7P

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 22 rs2854741
dbSNP Clinvar
42537404 906.77 G C PASS 1/1 26 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.82768 0.82770 0.00 None None None None None None None

DBNDD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 20 rs1127497
dbSNP Clinvar
44038574 285.77 A G PASS 0/1 31 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%

DCBLD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 3 rs9838238
dbSNP Clinvar
98600385 516.77 T C PASS 0/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02955 0.02955 0.03661 0.15 0.49 None None None None None None DCBLD2|0.153168212|42.49%

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 lfl38 snp 16 rs3213422
dbSNP Clinvar
72042682 657.77 A C PASS 1/1 19 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%

DHRS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 14 rs10134537
dbSNP Clinvar
24760764 164.77 G A PASS 0/1 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09365 0.09365 0.08819 0.11 0.01 None None None None None None DHRS1|0.040246768|65.68%

DHX58

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 17 rs76998797
dbSNP Clinvar
40258005 626.77 G A PASS 0/1 32 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00459 0.00459 0.00046 0.00 0.39 None None None None None None DHX58|0.049510794|62.81%

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 lfl38 snp 19 rs1110627
dbSNP Clinvar
39994711 1060.77 T C PASS 0/1 70 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%

DNAH11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 7 rs12537531
dbSNP Clinvar
21932044 1636.77 C T PASS 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36841 0.36840 0.36785 0.00 None None None None None None DNAH11|0.38215847|21.9%

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 lfl38 snp 1 rs3128658
dbSNP Clinvar
225273248 845.77 G T PASS 1/1 25 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70208 0.70210 0.17487 0.01 None None None None None None DNAH14|0.006049116|84.53%

DNAH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 17 rs73232344
dbSNP Clinvar
7674784 64.77 C T PASS 0/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05451 0.05451 0.01076 0.90 None None None None None None DNAH2|0.156733349|42.06%

DNAH6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 2 rs28375417
dbSNP Clinvar
84880445 329.77 G C PASS 0/1 30 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09924 0.09924 0.11569 0.41 0.09 None None None None None None DNAH6|0.093927386|52.39%

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 lfl38 snp 17 rs17612861
dbSNP Clinvar
11835331 444.77 G A PASS 0/1 29 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21006 0.21010 0.24958 0.18 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 lfl38 snp 2 rs907679
dbSNP Clinvar
220250147 1423.77 A G PASS 1/1 40 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%

DPP10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 2 rs146482002
dbSNP Clinvar
116598397 78.77 C A PASS 0/1 11 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00280 0.00280 0.00361 0.03 0.95 None None None None None None DPP10|0.841965077|4.84%

DSCAML1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 11 rs3741280
dbSNP Clinvar
117403235 862.77 G T PASS 1/1 25 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45268 0.45270 0.32269 1.00 0.00 None None None None None None DSCAML1|0.442947255|18.51%

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 lfl38 snp 11 rs28558789
dbSNP Clinvar
829539 349.77 A G PASS 1/1 10 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.66554 0.66550 0.33928 1.00 0.00 1.75 None None None None None None CRACR2B|0.008716499|81.94%

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 lfl38 snp 12 rs17857448
dbSNP Clinvar
7080212 1130.77 T C PASS 1/1 25 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 None None None None None None EMG1|0.122491052|47.03%

EMR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 19 rs61732002
dbSNP Clinvar
14854233 1070.77 G A PASS 0/1 67 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00499 0.00499 0.00769 0.24 0.02 None None None None None None ADGRE2|0.001319352|93.76%

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 lfl38 snp 7 rs6967117
dbSNP Clinvar
143088867 584.77 T C PASS 0/1 46 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%

EPHA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 6 rs2278106
dbSNP Clinvar
94120219 736.77 G A PASS 0/1 41 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06490 0.06490 0.02291 0.01 0.21 None None None None None None EPHA7|0.928718915|2.77%

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 lfl38 snp 9 rs7389423
dbSNP Clinvar
140250818 884.77 C T PASS 1/1 25 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%

F2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 11 rs771520898
dbSNP Clinvar
46748261 1421.77 A G PASS 0/1 85 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06 0.00 None None None None None None F2|0.792964612|6.02%

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 lfl38 snp 19 rs8107859
dbSNP Clinvar
17648350 1041.77 T C PASS 1/1 29 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%

FAM208B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 10 rs904024588
dbSNP Clinvar
5777269 482.77 G A PASS 0/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 1.00 None None None None None None FAM208B|0.026162013|71.24%

FASN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 17 rs2228306
dbSNP Clinvar
80040034 2490.77 A G PASS 0/1 124 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.04732 0.04732 0.02292 0.31 0.03 None None None None None None FASN|0.307148829|27.07%

FBRSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 12 rs3751303
dbSNP Clinvar
133158650 633.77 C T PASS 0/1 45 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.03794 0.03794 0.05 0.05 None None None None None None FBRSL1|0.012836973|78.61%

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 lfl38 snp 8 rs7012186
dbSNP Clinvar
125076589 969.77 T G PASS 1/1 26 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%

FMN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 15 rs2291065
dbSNP Clinvar
33381000 1269.77 A T PASS 0/1 99 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.23343 0.23340 0.00 None None None None None None FMN1|0.549093904|13.77%

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 lfl38 snp 9 rs4977881
dbSNP Clinvar
20988426 1242.77 A G PASS 1/1 37 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76857 0.76860 0.25704 1.00 0.00 None None None None None None FOCAD|0.402062048|20.62%

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 lfl38 snp 7 rs6960270
dbSNP Clinvar
151680072 1117.77 T C PASS 1/1 32 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 lfl38 snp 15 rs7181742
dbSNP Clinvar
42643529 383.77 T C PASS 0/1 18 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37840 0.37840 0.30437 0.00 None None None None None None GANC|0.071251222|57.16%,CAPN3|0.385639795|21.69%
View lfl38 snp 15 rs8043515
dbSNP Clinvar
42568547 484.77 C G PASS 1/1 13 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%

GCKR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 2 rs1260326
dbSNP Clinvar
27730940 1696.77 T C PASS 1/1 49 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70667 0.70670 0.32408 1.00 0.00 None None None None None None GCKR|0.083855811|54.46%

GPR144

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 9 rs58155983
dbSNP Clinvar
127220392 593.77 G C PASS 0/1 60 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10224 0.10220 0.04490 0.01 0.98 None None None None None None ADGRD2|0.010439319|80.54%

GRK4

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 lfl38 snp 4 rs1140085
dbSNP Clinvar
3015553 532.77 G A PASS 0/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.04333 0.04333 0.09696 0.33 0.81 None None None None None None GRK4|0.014130341|77.79%

GRK7

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 lfl38 snp 3 rs36009541
dbSNP Clinvar
141535558 830.77 A G PASS 0/1 51 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05611 0.05611 0.10526 0.56 0.00 None None None None None None GRK7|0.041751981|65.2%

HAP1

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 lfl38 snp 17 rs4796693
dbSNP Clinvar
39884583 2458.77 G A PASS 1/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.77316 0.77320 0.28341 0.04 0.00 None None None None None None JUP|0.822839641|5.24%,HAP1|0.012770935|78.67%

HEATR5A

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 lfl38 snp 14 rs7157977
dbSNP Clinvar
31858209 426.77 C T PASS 0/1 34 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.31090 0.31090 0.24 0.01 None None None None None None HEATR5A|0.279604078|29.11%

HEG1

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 lfl38 snp 3 rs2981546
dbSNP Clinvar
124746049 280.77 A G PASS 0/1 18 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.48882 0.48880 0.45841 0.19 0.01 None None None None None None HEG1|0.04030264|65.66%

HHLA1

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 lfl38 snp 8 rs2280851
dbSNP Clinvar
133089975 834.77 A G PASS 1/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.74541 0.74540 0.23960 1.00 0.00 None None None None None None HHLA1|0.007496766|83.08%

HLA-DRB1

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 lfl38 snp 6 rs17882084
dbSNP Clinvar
32549613 152.03 G C PASS 1/1 4 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None HLA-DRB1|0.032266025|68.49%

HMGXB3

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 lfl38 snp 5 rs6579767
dbSNP Clinvar
149406271 2247.77 C T PASS 1/1 63 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.80112 0.80110 0.15090 1.00 0.00 None None None None None None HMGXB3|0.367643315|22.89%

HMMR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 5 rs2230363
dbSNP Clinvar
162911075 140.77 C A PASS 0/1 8 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.03474 0.03474 0.09121 0.02 0.11 None None None None None None HMMR|0.282233137|28.94%

ICAM3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 19 rs7258015
dbSNP Clinvar
10449358 182.77 T C PASS 0/1 14 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.17891 0.17890 0.20852 0.35 0.01 None None None None None None ICAM3|0.000828486|96.5%

IFI35

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 17 rs588703
dbSNP Clinvar
41165493 2019.77 A G PASS 1/1 58 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.97544 0.97540 0.02414 0.14 0.00 None None None None None None IFI35|0.010107368|80.77%

IGHD2-2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 14 rs2857339
dbSNP Clinvar
106382687 245.77 C T PASS 0/1 29 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.35064 0.35060 0.45874 0.00 None None None None None None None

IGHV3-30

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 14 rs10148365
dbSNP Clinvar
106791006 55.77 C T PASS 0/1 6 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.53794 0.53790 0.24 0.04 None None None None None None None

IGHV3-64

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 14 rs200504122
dbSNP Clinvar
107114045 162.77 C T PASS 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.03 0.54 None None None None None None None

IQCF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 3 rs57859638
dbSNP Clinvar
51930850 620.77 T C PASS 0/1 38 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09864 0.09864 0.16046 0.58 0.00 None None None None None None IQCF1|0.003439671|87.87%

IRAK3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 12 rs1152888
dbSNP Clinvar
66605228 833.77 A G PASS 1/1 22 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70887 0.70890 0.21600 0.50 0.00 None None None None None None IRAK3|0.057119623|60.65%

ITGA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 5 rs1801106
dbSNP Clinvar
52358757 56.77 G A PASS 0/1 7 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10423 0.10420 0.12471 1.00 0.00 None None None None None None ITGA2|0.302638927|27.44%

ITGA8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lfl38 snp 10 rs1041135
dbSNP Clinvar
15573050 148.84 A G PASS 1/1 6 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.91394 0.91390 0.03621 0.83 0.00 None None None None None None ITGA8|0.264027504|30.37%