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+ Genes 11

+ Genes associated with diseases 9

Genes at Omim

ACAN, AP4E1, CEP152, CHD2, GABRB3, GATM, HEXA, IGF1R, RORA,
ACAN Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
CEP152 Microcephaly 9, primary, autosomal recessive, 614852 (3)
Seckel syndrome 5, 613823 (3)
CHD2 Epileptic encephalopathy, childhood-onset, 615369 (3)
GABRB3 {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3)
Epileptic encephalopathy, early infantile, 43, 617113 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
IGF1R Insulin-like growth factor I, resistance to, 270450 (3)
RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)

Genes at Clinical Genomics Database

ACAN, AP4E1, CEP152, CHD2, GABRB3, GATM, HEXA, IGF1R,
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
AP4E1 Stuttering, familial persistent, 1
Spastic paraplegia 51, autosomal recessive
CEP152 Seckel syndrome 5
Microcephaly 9, primary, autosomal recessive
CHD2 Epileptic encephalopathy, childhood-onset
GABRB3 Epilepsy, childhood absence, susceptibility to, 5
GATM Cerebral creatine deficiency syndrome 3
HEXA Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
IGF1R Insulin-like growth factor I, resistance to

Genes at HGMD

Summary

Number of Variants: 167
Number of Genes: 11

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2684789
dbSNP Clinvar 		99492045 276.78 G A . 1/1 10 None None None 0.60443 0.60440 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2293117
dbSNP Clinvar 		99478713 230.77 T C . 0/1 25 None None None 0.35483 0.35480 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs34389972
dbSNP Clinvar 		99478505 928.73 A AC . 1/1 29 None None None 0.98802 0.98800 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs10400894
dbSNP Clinvar 		99478493 719.77 T C . 1/1 26 None None None 0.98802 0.98800 None None None None None None IGF1R|0.984951188|1.29%

IGF1R
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2229765
dbSNP Clinvar 		99478225 1108.77 G A . 0/1 73 SYNONYMOUS_CODING LOW None 0.33566 0.33570 0.40268 None None None None None None IGF1R|0.984951188|1.29%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2715449
dbSNP Clinvar 		99477911 119.03 T G . 1/1 4 None None None 0.97544 0.97540 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs4486868
dbSNP Clinvar 		99472734 926.77 T C . 0/1 59 None None None 0.33726 0.33730 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3841650
dbSNP Clinvar 		99467942 632.73 GGT G . 0/1 37 None None None 0.20667 0.20670 0.14228 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2715429
dbSNP Clinvar 		99466969 506.77 C G . 1/1 14 None None None 0.84105 0.84110 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs41322748
dbSNP Clinvar 		99465809 42.77 C T . 0/1 5 None None None 0.10244 0.10240 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2684806
dbSNP Clinvar 		99465285 398.77 C T . 0/1 20 None None None 0.23622 0.23620 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs951715
dbSNP Clinvar 		99456553 353.77 G A . 0/1 36 None None None 0.63159 0.63160 0.35094 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2272037
dbSNP Clinvar 		99456253 565.77 T C . 0/1 46 None None None 0.51118 0.51120 0.46943 None None None None None None IGF1R|0.984951188|1.29%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2715415
dbSNP Clinvar 		99454363 249.8 A G . 1/1 7 None None None 0.57248 0.57250 None None None None None None IGF1R|0.984951188|1.29%

CHD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12906163
dbSNP Clinvar 		93567864 1397.77 A C . 0/1 92 SYNONYMOUS_CODING LOW None 0.18650 0.18650 0.31468 None None None None None None CHD2|0.402314815|20.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12905033
dbSNP Clinvar 		93567528 296.77 C T . 0/1 20 None None None 0.08726 0.08726 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12905032
dbSNP Clinvar 		93567527 212.77 C T . 0/1 19 None None None 0.08726 0.08726 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs28558199
dbSNP Clinvar 		93567526 314.77 G A . 0/1 19 None None None 0.50020 0.50020 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs964034
dbSNP Clinvar 		93563661 169.9 G C . 1/1 5 None None None 0.83347 0.83350 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs771761540
dbSNP Clinvar 		93563164 87.73 C CA . 0/1 22 None None None None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2119010
dbSNP Clinvar 		93555717 617.77 A G . 0/1 40 None None None 0.11681 0.11680 0.19074 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12900461
dbSNP Clinvar 		93552656 483.77 C T . 1/1 14 None None None 0.81570 0.81570 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12915582
dbSNP Clinvar 		93552330 1686.77 C T . 1/1 49 None None None 0.81330 0.81330 0.24761 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs201797039
dbSNP Clinvar 		93552277 147.73 TA T . 0/1 14 None None None 0.00719 0.00719 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2033847
dbSNP Clinvar 		93545831 213.84 G T . 1/1 6 None None None 0.81350 0.81350 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12591124
dbSNP Clinvar 		93543956 603.77 G A . 0/1 39 None None None 0.46046 0.46050 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs7173849
dbSNP Clinvar 		93542000 221.84 C G . 1/1 6 None None None 0.81649 0.81650 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs11630582
dbSNP Clinvar 		93540089 449.77 T C . 0/1 28 None None None 0.18650 0.18650 None None None None None None CHD2|0.402314815|20.62%

CHD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2272457
dbSNP Clinvar 		93536197 895.77 C T . 0/1 59 SYNONYMOUS_CODING LOW None 0.19349 0.19350 0.24850 None None None None None None CHD2|0.402314815|20.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2272458
dbSNP Clinvar 		93527843 210.84 G A . 1/1 6 None None None 0.74800 0.74800 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2272459
dbSNP Clinvar 		93527794 232.77 A T . 0/1 22 None None None 0.18351 0.18350 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2272461
dbSNP Clinvar 		93522312 680.77 G A . 0/1 46 None None None 0.64697 0.64700 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs11074122
dbSNP Clinvar 		93521651 1441.77 T G . 1/1 46 None None None 0.80970 0.80970 0.25735 None None None None None None CHD2|0.402314815|20.62%

CHD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs11074121
dbSNP Clinvar 		93521604 1958.77 A G . 1/1 63 SYNONYMOUS_CODING LOW None 0.80911 0.80910 0.25235 None None None None None None CHD2|0.402314815|20.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs111441731
dbSNP Clinvar 		93515799 11.83 G A LowQual 1/1 1 None None None None None None None None None CHD2|0.402314815|20.62%

CHD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs4777755
dbSNP Clinvar 		93510603 2227.77 A G . 1/1 65 SYNONYMOUS_CODING LOW None 0.82648 0.82650 0.23441 None None None None None None CHD2|0.402314815|20.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1371390
dbSNP Clinvar 		93496874 949.77 C T . 1/1 24 None None None 0.76118 0.76120 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1320819
dbSNP Clinvar 		93487854 410.77 G C . 0/1 24 None None None 0.56270 0.56270 None None None None None None CHD2|0.402314815|20.62%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3743469
dbSNP Clinvar 		93482656 151.77 G A . 0/1 7 None None None 0.54513 0.54510 None None None None None None CHD2|0.402314815|20.62%

ACAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3817428
dbSNP Clinvar 		89415247 424.77 C G . 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.11422 0.11420 0.20206 0.00 0.29 5.95 None None None None None None ACAN|0.017538305|75.58%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs371902718
dbSNP Clinvar 		89403743 378.77 C T . 0/1 25 None None None 0.00359 0.00359 None None None None None None ACAN|0.017538305|75.58%

ACAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs698621
dbSNP Clinvar 		89402596 2679.77 T G . 1/1 79 SYNONYMOUS_CODING LOW None 0.45148 0.45150 0.45219 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1042631
dbSNP Clinvar 		89402239 2519.77 T C . 1/1 72 SYNONYMOUS_CODING LOW None 0.73642 0.73640 0.18514 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1042630
dbSNP Clinvar 		89402051 2223.77 A G . 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.64597 0.64600 0.26503 0.20 0.01 -3.84 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3825994
dbSNP Clinvar 		89401615 2325.77 T G . 1/1 66 SYNONYMOUS_CODING LOW None 0.53255 0.53250 0.35216 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs4932439
dbSNP Clinvar 		89401109 2984.77 A G . 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.76038 0.76040 0.13224 1.00 0.01 -1.16 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2882676
dbSNP Clinvar 		89400339 3359.77 A C . 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.43105 0.19 0.24 0.14 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12899191
dbSNP Clinvar 		89400023 470.98 A G . 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.34 -1.51 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs4080952
dbSNP Clinvar 		89398825 188.8 C T . 1/1 29 SYNONYMOUS_CODING LOW None 0.31450 0.31450 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs938609
dbSNP Clinvar 		89398631 2082.77 T A . 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.43306 0.07 0.78 1.98 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs938608
dbSNP Clinvar 		89398605 1762.77 G T . 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.45268 0.45270 0.40313 0.01 0.84 2.30 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3743399
dbSNP Clinvar 		89398330 2924.77 G A . 1/1 83 SYNONYMOUS_CODING LOW None 0.00040 0.75900 0.13242 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2351491
dbSNP Clinvar 		89398105 2117.77 C T . 1/1 58 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.47549 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1568116
dbSNP Clinvar 		89392745 2469.77 T C . 1/1 75 SYNONYMOUS_CODING LOW None 0.99561 0.99560 0.00990 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2272023
dbSNP Clinvar 		89391160 2589.77 C A . 1/1 74 SYNONYMOUS_CODING LOW None 0.69429 0.69430 0.20369 None None None None None None ACAN|0.017538305|75.58%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12911138
dbSNP Clinvar 		89390434 644.77 G A . 1/1 18 None None None 0.02776 0.42090 0.37239 None None None None None None ACAN|0.017538305|75.58%

ACAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs34949187
dbSNP Clinvar 		89386652 1075.77 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.08207 0.08207 0.13300 0.02 0.95 5.22 None None None None None None ACAN|0.017538305|75.58%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs11324188,rs398028261
dbSNP Clinvar 		89386543 1692.73 AG A . 1/1 48 None None None 0.00009 None None None None None None ACAN|0.017538305|75.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2293087
dbSNP Clinvar 		89385151 1221.77 T G . 1/1 36 None None None 0.44469 0.44470 None None None None None None ACAN|0.017538305|75.58%

ACAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs35600223
dbSNP Clinvar 		89382261 730.77 G A . 0/1 48 SYNONYMOUS_CODING LOW None 0.00200 0.00200 0.00819 None None None None None None ACAN|0.017538305|75.58%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1484215
dbSNP Clinvar 		74640109 40.77 C T . 0/1 5 None None None 0.10144 0.10140 None None None None None None CYP11A1|0.126875127|46.36%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2279357
dbSNP Clinvar 		74630623 174.9 T C . 1/1 5 None None None 0.62720 0.62720 None None None None None None CYP11A1|0.126875127|46.36%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs5813687,rs758308084,rs398027905
dbSNP Clinvar 		72864578 40.73 AT A . 0/1 45 None None None 0.58666 0.58670 None None None None None None ARIH1|0.532256681|14.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs11403578,rs397802812
dbSNP Clinvar 		72859047 522.73 A AT . 1/1 26 None None None 0.45547 0.45550 None None None None None None ARIH1|0.532256681|14.49%

HEXA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1800431
dbSNP Clinvar 		72638892 2072.77 T C . 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.87640 0.87640 0.13000 0.29 0.00 1.48 None None None None None None HEXA|0.174212573|39.76%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs4777502
dbSNP Clinvar 		72637795 2855.77 T C . 1/1 79 SYNONYMOUS_CODING LOW None 0.87700 0.87700 0.13047 None None None None None None HEXA|0.174212573|39.76%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs9672683
dbSNP Clinvar 		68549396 14.68 C G LowQual 1/1 1 None None None 0.91254 0.91250 None None None None None None CLN6|0.159781409|41.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs8025947
dbSNP Clinvar 		68510770 567.77 A G . 0/1 35 None None None 0.47604 0.47600 None None None None None None CLN6|0.159781409|41.58%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs112296713
dbSNP Clinvar 		61521603 10.9 A G LowQual 1/1 1 None None None 1.00000 1.00000 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs117108602
dbSNP Clinvar 		61521581 93.28 A G . 1/1 3 None None None 1.00000 1.00000 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs77362668
dbSNP Clinvar 		61521579 94.28 A G . 1/1 3 None None None 1.00000 1.00000 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs73436629
dbSNP Clinvar 		61521567 91.28 A G . 1/1 3 None None None 1.00000 1.00000 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs4774369
dbSNP Clinvar 		60850320 839.77 A T . 1/1 22 None None None 0.99980 0.99980 None None None None None None RORA|0.995492903|0.78%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs10851682
dbSNP Clinvar 		60824108 1373.77 T C . 1/1 40 None None None 0.99980 0.99980 None None None None None None RORA|0.995492903|0.78%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs7171309
dbSNP Clinvar 		60797607 1756.77 T C . 1/1 48 None None None 0.59385 0.59380 None None None None None None RORA|0.995492903|0.78%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1869486
dbSNP Clinvar 		60794807 652.77 A G . 1/1 17 None None None 0.78035 0.78040 None None None None None None RORA|0.995492903|0.78%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1869487
dbSNP Clinvar 		60794766 261.8 A T . 1/1 7 None None None 0.97205 0.97200 None None None None None None RORA|0.995492903|0.78%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1869488
dbSNP Clinvar 		60794759 261.8 C T . 1/1 7 None None None 0.77776 0.77780 None None None None None None RORA|0.995492903|0.78%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs7183916
dbSNP Clinvar 		60792942 15.65 G A LowQual 1/1 1 None None None 0.78255 0.78250 None None None None None None RORA|0.995492903|0.78%

RORA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs11071539
dbSNP Clinvar 		60789798 2622.77 G T . 1/1 73 SYNONYMOUS_CODING LOW None 0.94030 0.94030 0.05744 None None None None None None RORA|0.995492903|0.78%

AP4E1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3825798
dbSNP Clinvar 		51294832 1037.77 G A . 0/1 65 SYNONYMOUS_CODING LOW None 0.20407 0.20410 0.18963 None None None None None None AP4E1|0.148213005|43.26%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3840015,rs397780643,rs397767948
dbSNP Clinvar 		51293164 548.73 G GT . 0/1 36 None None None 0.56590 0.56590 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12904382
dbSNP Clinvar 		51291576 281.77 G A . 0/1 17 None None None 0.50359 0.50360 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2289304
dbSNP Clinvar 		51289395 35.77 T C . 0/1 6 None None None 0.21086 0.21090 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2306335
dbSNP Clinvar 		51276128 1660.77 A G . 1/1 44 None None None 0.73243 0.73240 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs144809125,rs374803403
dbSNP Clinvar 		51240398 3072.73 AT... A . 0/1 61 None None None 0.20847 0.20850 0.18090 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2291107
dbSNP Clinvar 		51233812 1273.77 T C . 0/1 77 None None None 0.20827 0.20830 0.19549 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2306332
dbSNP Clinvar 		51217475 443.77 G A . 0/1 36 None None None 0.57089 0.57090 None None None None None None AP4E1|0.148213005|43.26%

AP4E1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2306331
dbSNP Clinvar 		51217361 818.77 T C . 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.44090 0.44090 0.43713 1.00 0.00 0.39 None None None None None None AP4E1|0.148213005|43.26%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2663553
dbSNP Clinvar 		51207818 887.77 G C . 0/1 48 None None None 0.56330 0.56330 0.43018 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3214932
dbSNP Clinvar 		51204394 691.73 C CT . 0/1 41 None None None 0.56370 0.56370 0.43042 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1147129
dbSNP Clinvar 		51204364 653.77 G A . 0/1 47 None None None 0.55911 0.55910 0.43721 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs76674534
dbSNP Clinvar 		51201158 476.77 A G . 0/1 44 None None None 0.15655 0.15650 0.14570 None None None None None None AP4E1|0.148213005|43.26%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1426200
dbSNP Clinvar 		49098016 335.78 C A . 1/1 9 None None None 0.88518 0.88520 None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs72739872
dbSNP Clinvar 		49097734 827.77 T C . 0/1 48 None None None None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs9920601
dbSNP Clinvar 		49097645 119.78 T A . 0/1 5 None None None 0.07748 0.07748 None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs368169627
dbSNP Clinvar 		49088520 30.77 C T . 0/1 7 None None None None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs373979471
dbSNP Clinvar 		49088518 30.77 C T . 0/1 7 None None None None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs58156069
dbSNP Clinvar 		49083577 363.77 C T . 0/1 55 None None None 0.34465 0.34460 0.41284 None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2289179
dbSNP Clinvar 		49074539 349.77 C T . 0/1 22 None None None 0.30471 0.30470 None None None None None None CEP152|0.092828159|52.66%