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SHOW ONLY VARIANTS PRESENT AT HGMD

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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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

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 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 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 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%
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 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%
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%
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 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 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 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 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 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 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 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 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%
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%

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%
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%

CEP152

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs16961560
dbSNP Clinvar
49048705 1059.77 G C . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.05052 0.05052 0.05548 0.10 0.04 0.42 None None None None None None CEP152|0.092828159|52.66%

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%
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%
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%
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%

CHRNA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs1042722
dbSNP Clinvar
32450704 56.77 G A . 0/1 44 SYNONYMOUS_CODING LOW None None None None None None None CHRNA7|0.168515319|40.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1042724
dbSNP Clinvar
32460419 43.77 C T . 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None CHRNA7|0.168515319|40.52%

CYFIP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs2289824
dbSNP Clinvar
22926229 10.9 G A LowQual 1/1 1 None None None 0.91913 0.91910 0.28 0.00 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs11633474
dbSNP Clinvar
22939192 1088.77 G A . 0/1 84 SYNONYMOUS_CODING LOW None 0.33007 0.33010 0.44603 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs7170637
dbSNP Clinvar
22969232 618.77 G A . 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.26578 0.26580 0.31001 0.58 0.00 None None None None None None None

GABRB3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs12910925
dbSNP Clinvar
27184435 697.77 C T . 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.33786 0.33790 0.37705 0.22 0.00 2.72 None None None None None None GABRB3|0.70386762|8.38%,GABRA5|0.194744921|37.3%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs17647384
dbSNP Clinvar
27184517 830.77 G A . 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.33766 0.33770 0.37635 0.00 -0.04 None None None None None None GABRB3|0.70386762|8.38%,GABRA5|0.194744921|37.3%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs34560927
dbSNP Clinvar
27184482 568.77 C T . 0/1 57 SYNONYMOUS_CODING LOW None 0.33726 0.33730 0.37688 None None None None None None GABRB3|0.70386762|8.38%,GABRA5|0.194744921|37.3%

GATM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs1145086
dbSNP Clinvar
45654327 773.77 A G . 0/1 54 SYNONYMOUS_CODING LOW None 0.71765 0.71770 0.46606 None None None None None None GATM|0.454733426|17.95%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs1288775
dbSNP Clinvar
45661678 1013.77 T A . 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.61861 0.61860 0.43496 0.55 0.00 1.30 None None None None None None GATM|0.454733426|17.95%

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%

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%

RORA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 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%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs3736054
dbSNP Clinvar
43322113 2327.77 C A . 1/1 68 None None None 0.83846 0.83850 0.15541 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs6493077
dbSNP Clinvar
43324942 481.77 C T . 1/1 14 None None None 0.80651 0.80650 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3784265
dbSNP Clinvar
43328663 1862.77 C T . 1/1 50 None None None 0.79433 0.79430 0.18278 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs7166596
dbSNP Clinvar
43330175 1432.77 A T . 1/1 40 None None None 0.98263 0.98260 None None None None None None UBR1|0.38202695|21.91%
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 rs36021315,rs567242207,rs767840570
dbSNP Clinvar
43351786 307.73 CA C . 1/1 31 None None None 0.63978 0.63980 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs4924704
dbSNP Clinvar
43352041 2195.77 G A . 1/1 62 None None None 0.84445 0.84440 0.14096 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs375762522
dbSNP Clinvar
43360287 100.73 TA T . 0/1 30 None None None None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12905967
dbSNP Clinvar
43378010 72.28 C A . 1/1 3 None None None 0.80312 0.80310 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs529798915
dbSNP Clinvar
43378118 40.73 CA C . 0/1 33 None None None 0.40575 0.40580 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs68062403
dbSNP Clinvar
43398108 1328.77 A G . 1/1 48 None None None 0.48582 0.48580 0.45855 None None None None None None UBR1|0.38202695|21.91%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12437840
dbSNP Clinvar
45669055 425.77 C A . 0/1 32 None None None 0.44309 0.44310 0.27009 None None None None None None GATM|0.454733426|17.95%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs12437887
dbSNP Clinvar
45669094 251.77 G A . 0/1 18 None None None 0.44349 0.44350 None None None None None None GATM|0.454733426|17.95%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs7164139
dbSNP Clinvar
45670851 37.77 G A . 0/1 5 START_GAINED LOW None 0.44389 0.44390 None None None None None None GATM|0.454733426|17.95%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 . 49037350 13.72 T C LowQual 1/1 1 None None None None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs34352957,rs573740782,rs398027188
dbSNP Clinvar
49040864 72.82 TA T . 1/1 16 None None None 0.84165 0.84170 None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs2306187
dbSNP Clinvar
49044538 638.77 C G . 0/1 56 None None None 0.32468 0.32470 0.23346 None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs73400358
dbSNP Clinvar
49054952 282.77 C A . 0/1 18 None None None 0.08427 0.08427 None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs9302144
dbSNP Clinvar
49059673 797.77 C T . 0/1 76 None None None 0.08287 0.08287 0.04461 None None None None None None CEP152|0.092828159|52.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 15 rs3213882
dbSNP Clinvar
49060725 80.77 T C . 0/1 5 None None None 0.45986 0.45990 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%
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 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 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 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 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 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 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 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 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 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 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%
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 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 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 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 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 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 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%
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 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 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 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 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 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 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 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 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 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 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 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%
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 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 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 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%
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 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%
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%
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%
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 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 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%