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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 2

Genes:
BRAT1, GRID2IP,

+ Genes associated with diseases 1

Genes at Omim

BRAT1,
BRAT1 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3)
Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)

Genes at Clinical Genomics Database

BRAT1,
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal

Genes at HGMD

Summary

Number of Variants: 50
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

BRAT1
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 2-ac-cap17_s1 genome 7 rs1043291
dbSNP Clinvar 		2577781 7781.61 T C PASS 0/1 589 SYNONYMOUS_CODING LOW None 0.46146 0.46150 0.43803 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs142129866
dbSNP Clinvar 		2579181 6957.14 C T PASS 0/1 566 NON_SYNONYMOUS_CODING MODERATE None 0.00046 1.00 0.81 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs4719552
dbSNP Clinvar 		2578237 7440.65 T C PASS 0/1 579 SYNONYMOUS_CODING LOW None 0.46086 0.46090 0.35401 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs61740320
dbSNP Clinvar 		2578857 6906.49 C T PASS 0/1 615 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.01300 0.15 0.92 None None None None None None None

GRID2IP
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 2-ac-cap17_s1 genome 7 rs6463571
dbSNP Clinvar 		6590693 7628.02 G A PASS 1/1 256 SYNONYMOUS_CODING LOW None 0.77137 0.77140 None None None None None None GRID2IP|0.055491049|61.06%
View 2-ac-cap17_s1 genome 7 rs6463568
dbSNP Clinvar 		6537821 18903.81 G C PASS 1/1 697 SYNONYMOUS_CODING LOW None 0.75599 0.75600 0.10053 None None None None None None GRID2IP|0.055491049|61.06%
View 2-ac-cap17_s1 genome 7 rs112305062
dbSNP Clinvar 		6547902 3723.39 G A PASS 0/1 402 NON_SYNONYMOUS_CODING MODERATE None 0.08007 0.08007 0.02 1.00 None None None None None None GRID2IP|0.055491049|61.06%
View 2-ac-cap17_s1 genome 7 rs4724818
dbSNP Clinvar 		6591041 15938.52 C G PASS 1/1 604 SYNONYMOUS_CODING LOW None 0.30312 0.30310 None None None None None None GRID2IP|0.055491049|61.06%
View 2-ac-cap17_s1 genome 7 rs2881723
dbSNP Clinvar 		6566322 4202.18 T G PASS 0/1 347 SYNONYMOUS_CODING LOW None 0.72125 0.72120 None None None None None None GRID2IP|0.055491049|61.06%
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 2-ac-cap17_s1 genome 7 rs2079335
dbSNP Clinvar 		149485455 7502.74 G A PASS 0/1 681 None None None 0.07867 0.07867 0.08745 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs73168056
dbSNP Clinvar 		149485557 9131.96 C T PASS 0/1 715 None None None 0.01298 0.01298 0.01219 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs199795943
dbSNP Clinvar 		149489540 8852.23 G A PASS 0/1 753 None None None 0.00140 0.00140 0.00252 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs61047652
dbSNP Clinvar 		149499115 10964.88 CAT C PASS 0/1 525 None None None 0.17033 0.17030 0.17883 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs10952230
dbSNP Clinvar 		149511985 19259.02 A G PASS 1/1 670 None None None 0.87081 0.87080 0.11700 None None None None None None None
View 2-ac-cap17_s1 genome 7 . 149499116 625.93 A . PASS 0 288 None None None 0.17033 0.17030 0.17883 None None None None None None None
View 2-ac-cap17_s1 genome 7 . 149499117 616.91 T . PASS 0 285 None None None 0.17033 0.17030 0.17883 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs2074690
dbSNP Clinvar 		149499318 2776.68 C T PASS 0/1 226 None None None 0.41913 0.41910 0.36371 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs2074693
dbSNP Clinvar 		149500013 12899.65 C G PASS 1/1 443 None None None 0.43091 0.43090 0.38450 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs71194663,rs397815440
dbSNP Clinvar 		149506211 28098.43 G GC PASS 1/1 673 None None None 1.00000 1.00000 0.00051 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs7791767
dbSNP Clinvar 		149513152 7469.68 C T PASS 0/1 651 None None None 0.21066 0.21070 0.17163 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs12674102
dbSNP Clinvar 		149513560 5915.96 T C PASS 0/1 528 None None None 0.39776 0.39780 0.36092 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs10250401
dbSNP Clinvar 		149515103 9198.15 C T PASS 0/1 725 None None None 0.20308 0.20310 0.17743 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs60594151,rs796385805
dbSNP Clinvar 		149515188 11182.85 TA T PASS 0/1 652 None None None 0.36721 0.36720 0.34538 None None None None None None None
View 2-ac-cap17_s1 genome 7 . 149515189 692.19 A . PASS 0 344 None None None 0.36721 0.36720 0.34538 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs740113
dbSNP Clinvar 		149515754 7367.13 A G PASS 0/1 662 None None None 0.49062 0.49060 0.46003 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs1557955
dbSNP Clinvar 		149515775 7382.51 C G PASS 0/1 651 None None None 0.20208 0.20210 0.17729 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs1557956
dbSNP Clinvar 		149515796 7483.76 C T PASS 0/1 670 None None None 0.20128 0.20130 0.17581 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs6464034
dbSNP Clinvar 		149516486 9099.66 A G PASS 0/1 709 None None None 0.49141 0.49140 0.46119 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs1005603
dbSNP Clinvar 		149516881 6615.12 G T PASS 0/1 621 None None None 0.20787 0.20790 0.17150 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs10233245
dbSNP Clinvar 		149518148 6995.58 A G PASS 0/1 617 None None None 0.42891 0.42890 0.37257 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs11353848
dbSNP Clinvar 		149518532 10363.32 TC T PASS 0/1 634 None None None 0.14766 None None None None None None None
View 2-ac-cap17_s1 genome 7 . 149518533 716.24 C . PASS 0 334 None None None 0.14766 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs1008335
dbSNP Clinvar 		149518961 9044.77 T C PASS 0/1 752 None None None 0.46286 0.46290 0.44250 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs1008336
dbSNP Clinvar 		149519184 7349.87 C T PASS 0/1 656 None None None 0.17832 0.17830 0.16120 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs201102091
dbSNP Clinvar 		149519742 5060.84 G A PASS 0/1 447 None None None 0.00120 0.00120 0.00343 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs4389841
dbSNP Clinvar 		149521183 7773.1 G A PASS 0/1 727 None None None 0.14876 0.14880 0.13478 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs12673475
dbSNP Clinvar 		149521544 8661.98 C T PASS 0/1 749 None None None 0.16494 0.16490 0.15114 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs62617122
dbSNP Clinvar 		149522162 8478.09 G T PASS 0/1 719 None None None 0.16833 0.16830 0.15461 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs2074697
dbSNP Clinvar 		149522366 8155.01 T G PASS 0/1 728 None None None 0.49461 0.49460 0.47247 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs1004200
dbSNP Clinvar 		149523277 7838.32 A G PASS 0/1 647 None None None 0.44888 0.44890 0.42936 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs10261977
dbSNP Clinvar 		149528262 5668.97 C T PASS 0/1 414 None None None 0.18650 0.18650 0.17461 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs6960187
dbSNP Clinvar 		149530894 7855.24 G A PASS 0/1 725 None None None 0.32209 0.32210 0.32159 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs2164688
dbSNP Clinvar 		2587122 5769.15 T C PASS 0/1 475 None None None 0.46366 0.46370 0.45079 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs6960419
dbSNP Clinvar 		2595406 4551.75 G A PASS 0/1 385 None None None 0.33586 0.33590 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs10262505
dbSNP Clinvar 		149484590 8163.01 T C PASS 0/1 692 None None None 0.08427 0.08427 0.09240 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs202034436
dbSNP Clinvar 		149473580 8692.34 A G PASS 0/1 781 None None None 0.00140 0.00140 0.00252 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs709061
dbSNP Clinvar 		149474393 6988.55 A G PASS 0/1 617 None None None 0.29353 0.29350 0.27868 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs57553723,rs397826817
dbSNP Clinvar 		149476666 26040.19 G GC PASS 1/1 726 None None None 1.00000 1.00000 0.00177 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs75029939
dbSNP Clinvar 		149482764 7912.52 C T PASS 0/1 653 None None None 0.03754 0.03754 0.04508 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs855688
dbSNP Clinvar 		149484891 8314.25 A G PASS 0/1 767 None None None 0.25100 0.25100 0.24721 None None None None None None None
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