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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes

Genes:

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Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 29
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 46651510241455_annotated 1 rs1883768
dbSNP Clinvar 		6165419 905.77 C T PASS 0/1 62 MOTIF[MA0139.1:CTCF] MODIFIER None 0.13838 0.13840 None None None None None None CHD5|0.117473003|47.85%
View 46651510241455_annotated 1 rs16834931
dbSNP Clinvar 		32689521 1192.77 A G PASS 1/1 35 MOTIF[MA0139.1:CTCF] MODIFIER None 0.22744 0.22740 None None None None None None EIF3I|0.594313487|11.97%
View 46651510241455_annotated 1 rs56375229
dbSNP Clinvar 		120612154 172.77 C G PASS 0/1 8 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View 46651510241455_annotated 1 rs55899574
dbSNP Clinvar 		120612163 175.77 C A PASS 0/1 7 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View 46651510241455_annotated 5 rs4957430
dbSNP Clinvar 		41843797 1660.77 C T PASS 0/1 109 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21605 0.21610 None None None None None None OXCT1|0.313202771|26.58%
View 46651510241455_annotated 5 rs2303128
dbSNP Clinvar 		78320085 1439.77 T C PASS 0/1 84 MOTIF[MA0047.2:FOXA2] MODIFIER None 0.11102 0.11100 0.07055 None None None None None None DMGDH|0.169846291|40.33%
View 46651510241455_annotated 7 rs144889298
dbSNP Clinvar 		856220 640.77 C T PASS 0/1 51 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.00399 0.00399 None None None None None None SUN1|0.007269788|83.24%
View 46651510241455_annotated 8 rs2250895
dbSNP Clinvar 		145692296 1469.77 A C PASS 1/1 52 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View 46651510241455_annotated 11 rs575375
dbSNP Clinvar 		64535357 4688.77 T C PASS 1/1 152 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View 46651510241455_annotated 14 rs4982856
dbSNP Clinvar 		24563212 532.77 T C PASS 0/1 74 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41154 0.41150 None None None None None None NRL|0.215034879|34.98%
View 46651510241455_annotated 14 rs11847538
dbSNP Clinvar 		106877519 753.77 A G PASS 0/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27875 0.27880 None None None None None None None
View 46651510241455_annotated 14 rs73367258
dbSNP Clinvar 		106877535 232.77 C G PASS 0/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05351 0.05351 None None None None None None None
View 46651510241455_annotated 17 rs820387
dbSNP Clinvar 		73746146 1547.77 T C PASS 1/1 52 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View 46651510241455_annotated 20 rs6086563
dbSNP Clinvar 		8703145 1246.77 C G PASS 0/1 77 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66214 0.66210 None None None None None None PLCB1|0.832831133|5.05%
View 46651510241455_annotated 2 rs2243805
dbSNP Clinvar 		128407499 169.77 G A PASS 0/1 17 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 46651510241455_annotated 3 rs7640969
dbSNP Clinvar 		45718327 932.77 T G PASS 0/1 61 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00040 0.00040 None None None None None None LIMD1|0.021021846|73.66%
View 46651510241455_annotated 5 rs2607301
dbSNP Clinvar 		10250047 140.9 C A PASS 1/1 5 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None CCT5|0.365250197|23.05%
View 46651510241455_annotated 7 rs1882655
dbSNP Clinvar 		66147057 1429.77 T C PASS 1/1 49 MOTIF[MA0062.2:Gabp] MODIFIER None 0.86681 0.86680 None None None None None None KCTD7|0.214101234|35.12%
View 46651510241455_annotated 14 rs56103835
dbSNP Clinvar 		101522556 831.77 T C PASS 0/1 63 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29792 0.29790 0.15757 None None None None None None None
View 46651510241455_annotated X rs62599865
dbSNP Clinvar 		134155904 333.77 G T PASS 1/1 11 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28027 0.28030 None None None None None None FAM127C|0.009218146|81.5%
View 46651510241455_annotated 6 rs2296358
dbSNP Clinvar 		7390369 1887.77 T C PASS 1/1 62 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View 46651510241455_annotated 7 rs1008384
dbSNP Clinvar 		44178626 1255.77 A G PASS 0/1 117 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16494 0.16490 0.19968 None None None None None None MYL7|0.150786926|42.85%
View 46651510241455_annotated 11 rs71487219
dbSNP Clinvar 		207400 184.77 A G PASS 0/1 12 MOTIF[MA0062.2:Gabp] MODIFIER None 0.59265 0.59270 None None None None None None None
View 46651510241455_annotated 11 rs11227495
dbSNP Clinvar 		66263243 222.77 C T PASS 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21246 0.21250 0.19181 None None None None None None DPP3|0.287233243|28.56%
View 46651510241455_annotated 13 rs9535292
dbSNP Clinvar 		50244041 2959.77 T C PASS 1/1 99 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View 46651510241455_annotated 15 rs2253603
dbSNP Clinvar 		40565055 3777.77 G A PASS 0/1 277 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View 46651510241455_annotated 17 rs2189336
dbSNP Clinvar 		5326162 1066.77 G A PASS 1/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View 46651510241455_annotated 19 rs368505697
dbSNP Clinvar 		5687278 513.77 G C PASS 0/1 41 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None RPL36|0.120727192|47.33%,HSD11B1L|0.004289669|86.61%
View 46651510241455_annotated 19 rs79274059
dbSNP Clinvar 		33090757 3351.77 G A PASS 1/1 98 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02616 0.02616 None None None None None None ANKRD27|0.115031878|48.32%
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