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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

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Genes at Omim

CNTNAP2, GUSB, HOXA1, MAGI2, MET, PEX1, SLC25A13,
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Pitt-Hopkins like syndrome 1, 610042 (3)
{Autism susceptibility 15}, 612100 (3)
GUSB Mucopolysaccharidosis VII, 253220 (3)
HOXA1 Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Bosley-Salih-Alorainy syndrome, 601536 (3)
MAGI2 Nephrotic syndrome, type 15, 617609 (3)
MET {Osteofibrous dysplasia, susceptibility to}, 607278 (3)
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
?Deafness, autosomal recessive 97, 616705 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
SLC25A13 Citrullinemia, adult-onset type II, 603471 (3)
Citrullinemia, type II, neonatal-onset, 605814 (3)

Genes at Clinical Genomics Database

CNTNAP2, GUSB, HOXA1, MET, PEX1, SLC25A13,
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
Pitt-Hopkins like syndrome 1
GUSB Mucopolysaccharidosis type VII
HOXA1 Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
MET Renal cell carcinoma, papillary
Deafness, autosomal recessive 97
PEX1 Heimler syndrome 1
SLC25A13 Citrin deficiency

Genes at HGMD

Summary

Number of Variants: 148
Number of Genes: 9

Export to: CSV

CNTNAP2

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 7 rs34592169
dbSNP Clinvar
147092861 1063.77 G A . 0/1 65 SYNONYMOUS_CODING LOW None 0.09365 0.09365 0.17425 None None None None None None CNTNAP2|0.836009361|4.94%

EN2

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 7 rs77846527
dbSNP Clinvar
155251183 594.77 G A . 0/1 48 SYNONYMOUS_CODING LOW None 0.10383 0.10380 None None None None None None EN2|0.358503209|23.56%

GUSB

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 7 rs9530
dbSNP Clinvar
65425894 762.77 A G . 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.49085 0.18 0.00 -0.41 None None None None None None GUSB|0.044564208|64.3%

HOXA1

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 7 rs10951154
dbSNP Clinvar
27135314 255.77 C T . 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.78075 0.78080 0.26957 0.58 0.00 1.69 None None None None None None HOXA1|0.672615665|9.31%

MAGI2

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 7 rs3735442
dbSNP Clinvar
78119109 1378.77 C T . 0/1 90 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.34546 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs7812015
dbSNP Clinvar
77756724 1572.77 C T . 1/1 47 SYNONYMOUS_CODING LOW None 0.78634 0.78630 0.11602 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs117054456
dbSNP Clinvar
77649085 671.77 C T . 0/1 44 SYNONYMOUS_CODING LOW None 0.01238 0.01238 0.02976 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2074641
dbSNP Clinvar
77756580 1678.77 T C . 1/1 51 SYNONYMOUS_CODING LOW None 0.78654 0.78650 0.11602 None None None None None None MAGI2|0.938878681|2.52%

MET

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 7 rs41737
dbSNP Clinvar
116436097 820.77 G A . 0/1 57 SYNONYMOUS_CODING LOW None 0.35463 0.35460 0.32105 None None None None None None MET|0.987477755|1.18%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2023748
dbSNP Clinvar
116436022 1262.77 G A . 0/1 73 SYNONYMOUS_CODING LOW None 0.35383 0.35380 0.32250 None None None None None None MET|0.987477755|1.18%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs41736
dbSNP Clinvar
116435768 1036.77 C T . 0/1 66 SYNONYMOUS_CODING LOW None 0.35224 0.35220 0.32350 None None None None None None MET|0.987477755|1.18%

PEX1

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 7 rs10278857
dbSNP Clinvar
92131289 979.77 G T . 0/1 83 SYNONYMOUS_CODING LOW None 0.94988 0.94990 0.06828 None None None None None None PEX1|0.101377404|50.89%

SLC25A13

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 7 rs2301629
dbSNP Clinvar
95800820 1319.77 T C . 0/1 73 SYNONYMOUS_CODING LOW None 0.40915 0.40910 0.32016 None None None None None None SLC25A13|0.335449834|25.1%

STX1A

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 7 rs2229854
dbSNP Clinvar
73122977 686.77 G A . 0/1 52 SYNONYMOUS_CODING LOW None 0.06689 0.06689 0.09173 None None None None None None STX1A|0.368093662|22.82%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs41271241
dbSNP Clinvar
73115201 439.77 G A . 0/1 45 None None None 0.09465 0.09465 0.10372 0.31 0.01 2.66 None None None None None None WBSCR22|0.109832108|49.23%,STX1A|0.368093662|22.82%
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 7 rs160647
dbSNP Clinvar
65554352 325.77 C T . 0/1 24 None None None 0.75000 0.75000 0.23086 None None None None None None ASL|0.442057983|18.56%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs1167406
dbSNP Clinvar
65556936 358.77 G C . 0/1 32 None None None 0.57828 0.57830 0.33158 None None None None None None ASL|0.442057983|18.56%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs776191292,rs67457607
dbSNP Clinvar
65557448 86.73 GA G . 0/1 26 None None None None None None None None None ASL|0.442057983|18.56%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs55838430
dbSNP Clinvar
70238858 324.78 G C . 1/1 9 None None None 0.23303 0.23300 None None None None None None AUTS2|0.998368801|0.51%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs951392
dbSNP Clinvar
70246898 55.74 G T . 1/1 2 None None None 0.25260 0.25260 None None None None None None AUTS2|0.998368801|0.51%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2293503
dbSNP Clinvar
70250125 741.77 T C . 1/1 19 None None None 0.51637 0.51640 None None None None None None AUTS2|0.998368801|0.51%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs4363087
dbSNP Clinvar
73118196 282.77 T C . 0/1 20 None None None 0.40336 0.40340 0.29279 None None None None None None WBSCR22|0.109832108|49.23%,STX1A|0.368093662|22.82%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2293501
dbSNP Clinvar
70251923 1005.77 G A . 1/1 26 None None None 0.59605 0.59600 None None None None None None AUTS2|0.998368801|0.51%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2293500
dbSNP Clinvar
70252185 3323.77 A G . 1/1 92 None None None 0.69129 0.69130 0.20452 None None None None None None AUTS2|0.998368801|0.51%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2293497
dbSNP Clinvar
70252588 215.84 A G . 1/1 6 None None None 0.68610 0.68610 None None None None None None AUTS2|0.998368801|0.51%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs941346
dbSNP Clinvar
70254674 1622.77 G T . 1/1 49 None None None 0.56350 0.56350 None None None None None None AUTS2|0.998368801|0.51%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs707423
dbSNP Clinvar
74173290 106.77 G A . 0/1 14 None None None None None None None None None GTF2I|0.228384234|33.5%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs7807316
dbSNP Clinvar
73118398 320.78 T C . 1/1 10 None None None 0.98063 0.98060 None None None None None None WBSCR22|0.109832108|49.23%,STX1A|0.368093662|22.82%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs72555385
dbSNP Clinvar
73123473 534.77 A G . 0/1 33 None None None 0.02696 0.02696 0.03629 None None None None None None STX1A|0.368093662|22.82%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs73362402
dbSNP Clinvar
73123529 177.77 C T . 0/1 13 None None None 0.06769 0.06769 None None None None None None STX1A|0.368093662|22.82%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs149618
dbSNP Clinvar
73530046 659.77 A G . 1/1 19 None None None 0.91873 0.91870 None None None None None None LIMK1|0.418317168|19.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs35203738
dbSNP Clinvar
74105196 662.77 C T . 1/1 18 None None None 0.15236 0.15240 None None None None None None GTF2I|0.228384234|33.5%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs3846966
dbSNP Clinvar
74113141 14.68 G A LowQual 1/1 1 None None None 0.15935 0.15930 None None None None None None GTF2I|0.228384234|33.5%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2301907
dbSNP Clinvar
74114847 1434.77 T C . 1/1 36 None None None 0.16114 0.16110 None None None None None None GTF2I|0.228384234|33.5%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs810377
dbSNP Clinvar
74152376 730.77 T C . 0/1 80 None None None None None None None None None GTF2I|0.228384234|33.5%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs370361780
dbSNP Clinvar
74160447 119.9 A T . 1/1 5 None None None 0.15236 0.15240 None None None None None None GTF2I|0.228384234|33.5%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2523275
dbSNP Clinvar
74167356 164.84 A T . 1/1 12 None None None None None None None None None GTF2I|0.228384234|33.5%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs3823797
dbSNP Clinvar
77694740 65.77 A G . 0/1 10 None None None 0.22764 0.22760 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs200498035
dbSNP Clinvar
77708105 28.77 A G . 0/1 9 None None None None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs73136595
dbSNP Clinvar
77708131 221.77 A G . 0/1 20 None None None 0.21486 0.21490 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs1990031
dbSNP Clinvar
77755345 414.77 G C . 1/1 11 None None None 0.78694 0.78690 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs9656109
dbSNP Clinvar
77756815 253.8 G T . 1/1 7 None None None 0.00499 0.00499 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2074642
dbSNP Clinvar
77756849 93.28 C T . 1/1 3 None None None 0.78634 0.78630 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2072155
dbSNP Clinvar
77762457 246.77 T C . 0/1 19 None None None 0.71526 0.71530 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs1465221
dbSNP Clinvar
77764253 286.77 G A . 0/1 24 None None None 0.27256 0.27260 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs767682
dbSNP Clinvar
77764591 1153.77 C A . 1/1 32 None None None 0.81889 0.81890 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs113437537,rs560841840
dbSNP Clinvar
77797475 248.73 CT C . 0/1 43 None None None None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs3823780
dbSNP Clinvar
77815169 201.77 A G . 0/1 16 None None None 0.39577 0.39580 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs117170081
dbSNP Clinvar
77998268 178.77 T C . 0/1 9 None None None 0.02097 0.02097 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs1548868
dbSNP Clinvar
78118982 508.77 G A . 0/1 48 None None None 0.32348 0.32350 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs1990577
dbSNP Clinvar
78119199 824.77 A C . 0/1 67 None None None 0.00040 0.61720 0.46778 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs77689557,rs386410529,rs386410530,rs372920470,rs3086374
dbSNP Clinvar
78119221 857.19 G GA... . 1/2 56 None None None 0.00539 0.38000 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs38116
dbSNP Clinvar
78256342 898.77 C T . 0/1 56 None None None 0.43910 0.43910 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs38117
dbSNP Clinvar
78256643 590.77 G T . 0/1 42 None None None 0.55871 0.55870 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs4730601
dbSNP Clinvar
78636202 297.78 T C . 1/1 8 None None None 0.64317 0.64320 None None None None None None MAGI2|0.938878681|2.52%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs58675984
dbSNP Clinvar
83789333 286.77 T G . 0/1 19 None None None 0.08007 0.08007 None None None None None None SEMA3A|0.980040576|1.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs10269874
dbSNP Clinvar
92128835 54.74 G T . 1/1 2 None None None 0.10503 0.10500 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs59186128
dbSNP Clinvar
83789426 482.77 C T . 0/1 48 None None None 0.07568 0.07568 None None None None None None SEMA3A|0.980040576|1.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs7786079
dbSNP Clinvar
83789477 599.77 A C . 0/1 40 None None None 0.07967 0.07967 None None None None None None SEMA3A|0.980040576|1.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs7789995
dbSNP Clinvar
83789520 1361.77 T A . 1/1 38 None None None 0.93031 0.93030 None None None None None None SEMA3A|0.980040576|1.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs972923
dbSNP Clinvar
92119284 716.77 C G . 1/1 20 None None None 0.99980 0.99980 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs117514298
dbSNP Clinvar
92123966 668.77 C T . 0/1 39 None None None 0.00839 0.00839 0.01793 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs5885806
dbSNP Clinvar
92129161 485.73 CA C . 0/1 62 None None None None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs10236856
dbSNP Clinvar
92135686 747.77 C T . 0/1 60 None None None 0.06350 0.06350 0.07497 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs6465359
dbSNP Clinvar
92135802 68.77 T A . 0/1 8 None None None 0.93391 0.93390 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs151002946,rs79002315
dbSNP Clinvar
92136499 225.73 T TA . 0/1 39 None None None None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2111200
dbSNP Clinvar
92140397 417.77 C T . 0/1 50 None None None 0.26717 0.26720 0.23519 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs38807
dbSNP Clinvar
92143007 257.77 G T . 0/1 12 None None None 0.90316 0.90320 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs38809
dbSNP Clinvar
92147584 1162.77 C T . 0/1 80 None None None 0.89397 0.89400 0.13532 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs12386703
dbSNP Clinvar
92157802 370.77 G C . 0/1 26 None None None 0.06290 0.06290 None None None None None None PEX1|0.101377404|50.89%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs42039
dbSNP Clinvar
92244422 235.77 C T . 0/1 22 None None None 0.12700 0.12700 0.20537 None None None None None None CDK6|0.974469518|1.6%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs3731387,rs1610912,rs869175872
dbSNP Clinvar
92244630 433.73 TA... T . 0/1 28 None None None 0.11701 0.11700 0.18776 None None None None None None CDK6|0.974469518|1.6%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs42043
dbSNP Clinvar
92247333 544.77 A G . 0/1 47 None None None 0.17452 0.17450 None None None None None None CDK6|0.974469518|1.6%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs42046
dbSNP Clinvar
92252203 40.77 C G . 0/1 6 None None None 0.13698 0.13700 None None None None None None CDK6|0.974469518|1.6%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs3731303
dbSNP Clinvar
92403859 146.77 C T . 0/1 9 None None None 0.14457 0.14460 None None None None None None CDK6|0.974469518|1.6%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2301648
dbSNP Clinvar
95776149 323.78 C T . 1/1 9 None None None 0.43111 0.43110 None None None None None None SLC25A13|0.335449834|25.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs17151558
dbSNP Clinvar
103132355 474.77 G T . 0/1 39 None None None 0.14617 0.14620 0.14094 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs6962870
dbSNP Clinvar
95813831 429.77 C T . 0/1 26 None None None 0.40276 0.40280 None None None None None None SLC25A13|0.335449834|25.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2073976
dbSNP Clinvar
95818444 39.77 C T . 0/1 6 None None None 0.40336 0.40340 None None None None None None SLC25A13|0.335449834|25.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs6957286
dbSNP Clinvar
95818475 328.78 G T . 1/1 9 None None None 0.98303 0.98300 None None None None None None SLC25A13|0.335449834|25.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs11335226,rs557803213,rs576738194,rs34084875
dbSNP Clinvar
95818864 63.73 CA C . 0/1 64 None None None 0.48760 None None None None None None SLC25A13|0.335449834|25.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs4487672
dbSNP Clinvar
95820219 53.74 T C . 1/1 3 None None None 0.98283 0.98280 None None None None None None SLC25A13|0.335449834|25.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs6957975
dbSNP Clinvar
95864108 1055.77 T C . 0/1 82 None None None 0.60982 0.60980 0.31101 None None None None None None SLC25A13|0.335449834|25.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2293481
dbSNP Clinvar
99699626 476.77 T C . 0/1 48 None None None 0.65475 0.65480 0.41689 None None None None None None AP4M1|0.135569421|45.04%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs999886
dbSNP Clinvar
99700864 92.77 A G . 0/1 14 None None None 0.65415 0.65420 None None None None None None AP4M1|0.135569421|45.04%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs999885
dbSNP Clinvar
99701176 876.77 G A . 0/1 50 None None None 0.53714 0.53710 0.44972 None None None None None None AP4M1|0.135569421|45.04%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs13221278
dbSNP Clinvar
99701530 16.86 G A LowQual 0/1 8 None None None None None None None None None AP4M1|0.135569421|45.04%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs4729577
dbSNP Clinvar
99701640 872.77 T C . 0/1 48 None None None 0.65695 0.65690 None None None None None None AP4M1|0.135569421|45.04%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2293479
dbSNP Clinvar
99703958 813.77 T C . 0/1 54 None None None 0.30312 0.30310 0.26834 None None None None None None AP4M1|0.135569421|45.04%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2272338
dbSNP Clinvar
99707712 405.77 A G . 0/1 27 None None None 0.65795 0.65790 0.42642 None None None None None None AP4M1|0.135569421|45.04%,TAF6|0.235485482|32.85%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs4134917
dbSNP Clinvar
99707950 772.77 C T . 0/1 33 None None None 0.65495 0.65500 0.41546 None None None None None None AP4M1|0.135569421|45.04%,TAF6|0.235485482|32.85%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs17348122
dbSNP Clinvar
103123991 221.77 T C . 0/1 11 None None None 0.03295 0.03295 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs2711885
dbSNP Clinvar
103138517 2761.77 C G . 1/1 73 None None None 0.99561 0.99560 0.00907 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs10282605
dbSNP Clinvar
103162370 1298.77 C T . 1/1 33 None None None 0.74760 0.74760 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs362706
dbSNP Clinvar
103175965 1688.77 C T . 1/1 47 None None None 0.71026 0.71030 0.24312 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs362707
dbSNP Clinvar
103176052 649.77 C T . 1/1 17 None None None 0.58666 0.58670 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs362721
dbSNP Clinvar
103191428 502.77 C T . 1/1 15 None None None 0.32009 0.32010 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs539379236,rs35588028
dbSNP Clinvar
103234985 277.73 C CT . 0/1 35 None None None 0.26737 0.26740 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs574036533,rs10673432,rs57938060
dbSNP Clinvar
103251983 82.73 A AT . 0/1 22 None None None 0.00040 0.30690 None None None None None None RELN|0.98955323|1.1%
View dossier4-di450-2-b00h4r3_hg19_snp annot 7 rs362646
dbSNP Clinvar
103275803 639.77 T C . 0/1 43 None None None 0.47085 0.47080 None None None None None None RELN|0.98955323|1.1%