SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
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Genes:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 46
Number of Genes: 0

Export to: CSV
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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 gird-c1a filtered variants 1 rs533804276
dbSNP Clinvar
17025975 96.77 G A PASS 0/1 33 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View gird-c1a filtered variants 1 rs2027222
dbSNP Clinvar
9084924 1729.77 T C PASS 1/1 46 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View gird-c1a filtered variants 5 rs4957430
dbSNP Clinvar
41843797 862.77 C T PASS 0/1 83 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21605 0.21610 None None None None None None OXCT1|0.313202771|26.58%
View gird-c1a filtered variants 11 rs12793946
dbSNP Clinvar
13031846 3064.77 G A PASS 0/1 225 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05072 0.05072 0.08486 None None None None None None None
View gird-c1a filtered variants 11 rs2298724
dbSNP Clinvar
120823721 398.77 A G PASS 0/1 18 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26558 0.26560 0.25984 None None None None None None GRIK4|0.59773792|11.84%
View gird-c1a filtered variants 12 rs1379610
dbSNP Clinvar
53681683 46.77 A G PASS 0/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11222 0.11220 None None None None None None ESPL1|0.25246921|31.33%
View gird-c1a filtered variants 13 rs67765306
dbSNP Clinvar
40229842 379.77 A AG PASS 0/1 41 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View gird-c1a filtered variants 14 rs4982856
dbSNP Clinvar
24563212 250.77 T C PASS 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41154 0.41150 None None None None None None NRL|0.215034879|34.98%
View gird-c1a filtered variants 14 rs10147348
dbSNP Clinvar
105363202 129.03 A G PASS 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57847 0.57850 None None None None None None None
View gird-c1a filtered variants 14 rs11847538
dbSNP Clinvar
106877519 2514.77 A G PASS 0/1 103 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27875 0.27880 None None None None None None None
View gird-c1a filtered variants 14 rs73367258
dbSNP Clinvar
106877535 2304.77 C G PASS 0/1 87 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05351 0.05351 None None None None None None None
View gird-c1a filtered variants 15 rs2253603
dbSNP Clinvar
40565055 8951.77 G A PASS 1/1 289 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View gird-c1a filtered variants 19 rs2301669
dbSNP Clinvar
19453560 1426.77 C A PASS 1/1 38 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52436 0.52440 0.42822 None None None None None None MAU2|0.230960956|33.29%
View gird-c1a filtered variants 19 rs1675389
dbSNP Clinvar
41076749 474.77 C G PASS 1/1 13 MOTIF[MA0139.1:CTCF] MODIFIER None 0.73163 0.73160 None None None None None None SPTBN4|0.129297716|45.97%
View gird-c1a filtered variants 19 . 50762358 701.77 T TG... PASS 0/1 46 MOTIF[MA0139.1:CTCF] LOW None None None None None None None MYH14|0.042775687|64.86%
View gird-c1a filtered variants 20 rs6089695
dbSNP Clinvar
60808026 993.77 C T PASS 1/1 30 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38538 0.38540 None None None None None None None
View gird-c1a filtered variants 22 rs6269
dbSNP Clinvar
19949952 244.77 A G PASS 0/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.35683 0.35680 None None None None None None COMT|0.166055932|40.8%
View gird-c1a filtered variants 4 rs17470892
dbSNP Clinvar
48143201 349.78 T C PASS 1/1 9 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19569 0.19570 None None None None None None TEC|0.720083632|7.97%
View gird-c1a filtered variants 4 rs10639733,rs768598040
dbSNP Clinvar
120550125 153.77 A AGGC PASS 0/1 7 MOTIF[MA0139.1:CTCF] LOW None None None None None None None PDE5A|0.288780989|28.44%
View gird-c1a filtered variants 8 rs4841558
dbSNP Clinvar
11415597 1749.77 C T PASS 1/1 47 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View gird-c1a filtered variants 8 rs1042701
dbSNP Clinvar
11422045 1702.77 G A PASS 0/1 129 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24002 0.24000 None None None None None None BLK|0.095762795|51.98%
View gird-c1a filtered variants 9 rs1572344
dbSNP Clinvar
133948375 205.77 T C PASS 0/1 13 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81550 0.81550 None None None None None None LAMC3|0.028908459|69.93%
View gird-c1a filtered variants 10 rs181250655
dbSNP Clinvar
104163747 430.77 C T PASS 0/1 49 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00060 0.00060 0.00155 None None None None None None PSD|0.196303505|37.14%
View gird-c1a filtered variants 11 rs4078520
dbSNP Clinvar
723429 1007.77 C T PASS 0/1 86 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34165 0.34170 None None None None None None EPS8L2|0.009899843|80.93%
View gird-c1a filtered variants 11 rs2074039
dbSNP Clinvar
44092880 867.77 C T PASS 0/1 54 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View gird-c1a filtered variants 11 rs575375
dbSNP Clinvar
64535357 2899.77 T C PASS 1/1 89 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View gird-c1a filtered variants 12 rs1244063
dbSNP Clinvar
124832606 883.77 A G PASS 1/1 26 MOTIF[MA0139.1:CTCF] MODIFIER None 0.76578 0.76580 None None None None None None NCOR2|0.460506037|17.66%
View gird-c1a filtered variants 13 rs9535292
dbSNP Clinvar
50244041 6279.77 T C PASS 1/1 194 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View gird-c1a filtered variants 14 rs72710126
dbSNP Clinvar
95696275 767.77 G A PASS 0/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.12820 0.12820 None None None None None None CLMN|0.046085386|63.88%
View gird-c1a filtered variants 22 rs2072814
dbSNP Clinvar
32870769 72.77 C T PASS 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.53834 0.53830 None None None None None None FBXO7|0.186130315|38.24%
View gird-c1a filtered variants 2 rs2243805
dbSNP Clinvar
128407499 459.77 G A PASS 1/1 14 MOTIF[MA0139.1:CTCF] MODIFIER None 0.54293 0.54290 None None None None None None LIMS2|0.178462666|39.21%,GPR17|0.126816892|46.37%
View gird-c1a filtered variants 3 rs76234423
dbSNP Clinvar
9969801 377.77 G A PASS 0/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11142 0.11140 0.09150 4.80 None None None None None None IL17RC|0.032341056|68.45%
View gird-c1a filtered variants 4 rs71606834
dbSNP Clinvar
140217010 1398.77 G C PASS 0/1 102 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10583 0.10580 None None None None None None NDUFC1|0.017018884|75.84%
View gird-c1a filtered variants 5 rs2431072
dbSNP Clinvar
150677976 370.77 T C PASS 0/1 26 MOTIF[MA0139.1:CTCF] MODIFIER None 0.82568 0.82570 None None None None None None SLC36A3|0.018050533|75.25%
View gird-c1a filtered variants 7 rs5888422,rs397781507
dbSNP Clinvar
150672162 107.03 T TC PASS 1/1 4 MOTIF[MA0139.1:CTCF] LOW None 1.00000 1.00000 None None None None None None KCNH2|0.688011457|8.87%
View gird-c1a filtered variants 14 rs6109
dbSNP Clinvar
95058360 169.77 A G PASS 0/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View gird-c1a filtered variants 16 rs7206590
dbSNP Clinvar
85120500 88.77 C T PASS 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29293 0.29290 None None None None None None KIAA0513|0.076353431|56.01%
View gird-c1a filtered variants 17 rs2189336
dbSNP Clinvar
5326162 3411.77 G A PASS 0/1 214 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View gird-c1a filtered variants 17 rs820387
dbSNP Clinvar
73746146 3625.77 T C PASS 1/1 102 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View gird-c1a filtered variants 17 rs55715426
dbSNP Clinvar
73760820 752.77 G A PASS 0/1 59 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09984 0.09984 0.10000 None None None None None None GALK1|0.289083483|28.42%
View gird-c1a filtered variants 19 rs10432306
dbSNP Clinvar
5892743 1092.77 C T PASS 0/1 62 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41274 0.41270 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View gird-c1a filtered variants 19 rs1631032
dbSNP Clinvar
5892770 2336.77 C T PASS 1/1 70 MOTIF[MA0139.1:CTCF] MODIFIER None 0.58586 0.58590 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View gird-c1a filtered variants 19 rs12975442
dbSNP Clinvar
7917919 771.77 C T PASS 0/1 37 MOTIF[MA0139.1:CTCF] MODIFIER None 0.42931 0.42930 None None None None None None EVI5L|0.086789363|53.81%
View gird-c1a filtered variants 19 rs338584
dbSNP Clinvar
41712113 1416.77 C G PASS 0/1 111 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28215 0.28210 None None None None None None CYP2S1|0.00746674|83.09%
View gird-c1a filtered variants 20 rs6086563
dbSNP Clinvar
8703145 603.77 C G PASS 1/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66214 0.66210 None None None None None None PLCB1|0.832831133|5.05%
View gird-c1a filtered variants 22 rs113629387
dbSNP Clinvar
23657939 155.9 T C PASS 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47125 0.47120 None None None None None None BCR|0.805888971|5.65%
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