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+ Genes 7

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 60
Number of Genes: 7

Export to: CSV
  • Page 1 of 1

C1orf222
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 20166-01-01_s20-kopie 1 rs2803336
dbSNP Clinvar 		1875858 7106.11 C G PASS 0/1 858 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38498 0.38500 0.04 0.99 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2803295
dbSNP Clinvar 		1861582 13531.89 C T PASS 0/1 1193 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35583 0.35580 0.00 0.99 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2803326
dbSNP Clinvar 		1873514 8236.14 A G PASS 0/1 900 SYNONYMOUS_CODING LOW SILENT 0.59245 0.59250 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs16824585
dbSNP Clinvar 		1896440 11643.52 G A PASS 0/1 916 None None None 0.21665 0.21670 0.24062 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2803327
dbSNP Clinvar 		1873525 8460.67 T C PASS 0/1 902 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59245 0.59250 0.49 0.00 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2748972
dbSNP Clinvar 		1891477 9207.03 A G PASS 0/1 759 None None None 0.13219 0.13220 0.16057 0.00 0.00 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs3820011
dbSNP Clinvar 		1888193 5853.61 C A PASS 0/1 681 None None None 0.18690 0.18690 0.21876 0.00 1.00 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs28575980
dbSNP Clinvar 		1887245 9931.49 G A PASS 0/1 875 None None None 0.18131 0.18130 0.20683 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2803337
dbSNP Clinvar 		1875859 7097.33 A G PASS 0/1 860 SYNONYMOUS_CODING LOW SILENT 0.39776 0.39780 None None None None None None CFAP74|0.001720148|91.8%

CCDC19
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 20166-01-01_s20-kopie 1 rs7550537
dbSNP Clinvar 		159850401 5765.28 C G PASS 0/1 491 SYNONYMOUS_CODING LOW SILENT 0.12300 0.12300 0.11395 None None None None None None CFAP45|0.081179858|54.94%

DNALI1
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 20166-01-01_s20-kopie 1 rs140783025
dbSNP Clinvar 		38022581 11216.98 A G PASS 0/1 893 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00015 0.06 0.00 None None None None None None DNALI1|0.256307067|31.03%
View 20166-01-01_s20-kopie 1 rs11749
dbSNP Clinvar 		38023316 4375.13 C T PASS 0/1 475 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20427 0.20430 0.20283 0.05 0.01 None None None None None None DNALI1|0.256307067|31.03%

EFCAB2
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 20166-01-01_s20-kopie 1 rs10927387
dbSNP Clinvar 		245245402 2831.54 C T PASS 0/1 320 SYNONYMOUS_CODING LOW SILENT 0.28934 0.28930 0.34638 None None None None None None EFCAB2|0.09874582|51.4%

IQGAP3
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 20166-01-01_s20-kopie 1 rs1171566
dbSNP Clinvar 		156499969 28303.76 T C PASS 1/1 1079 SYNONYMOUS_CODING LOW SILENT 0.60563 0.60560 0.46294 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs2066377
dbSNP Clinvar 		156536221 13560.99 G C PASS 1/1 502 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs947662
dbSNP Clinvar 		156536251 17415.82 T C PASS 1/1 669 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs1171547
dbSNP Clinvar 		156532977 22048.32 T C PASS 1/1 855 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs2488269
dbSNP Clinvar 		156526444 22724.49 T C PASS 1/1 853 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96006 0.96010 0.04244 1.00 0.00 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs744224
dbSNP Clinvar 		156518379 18903.49 G A PASS 1/1 668 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40715 0.40710 0.28341 0.13 0.00 None None None None None None IQGAP3|0.099380714|51.29%

RP11-156E8.1
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 20166-01-01_s20-kopie 1 rs7545078
dbSNP Clinvar 		245133489 4654.73 T G PASS 0/1 361 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48762 0.48760 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs10536649
dbSNP Clinvar 		245133549 4059.75 GGC G PASS 0/1 227 FRAME_SHIFT HIGH 0.48203 0.48200 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs145835471,rs78699431
dbSNP Clinvar 		245133623 11072.02 T TC... PASS 0/1 362 FRAME_SHIFT HIGH 0.49720 0.49720 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs61844237
dbSNP Clinvar 		245133662 5989.21 G C PASS 0/1 558 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37121 0.37120 0.30 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs7542813
dbSNP Clinvar 		245133539 6669.21 A G PASS 1/1 253 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None EFCAB2|0.09874582|51.4%

SPAG17
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 20166-01-01_s20-kopie 1 rs1935992
dbSNP Clinvar 		118693217 1228.54 T C PASS 0/1 177 SYNONYMOUS_CODING LOW SILENT 0.22704 0.22700 0.16050 None None None None None None SPAG17|0.037205443|66.71%
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 20166-01-01_s20-kopie 1 rs6619
dbSNP Clinvar 		38030696 5711.78 T C PASS 0/1 579 None None None 0.41094 0.41090 0.37552 None None None None None None DNALI1|0.256307067|31.03%
View 20166-01-01_s20-kopie 1 rs41267325
dbSNP Clinvar 		38032294 3804.28 C T PASS 0/1 386 None None None 0.02137 0.02137 None None None None None None DNALI1|0.256307067|31.03%
View 20166-01-01_s20-kopie 1 rs4658701
dbSNP Clinvar 		245286313 6954.08 G A PASS 0/1 515 None None None 0.09924 0.09924 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs4350140
dbSNP Clinvar 		1918488 17829.85 A G PASS 1/1 670 None None None 0.63059 0.63060 0.35962 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs3795280
dbSNP Clinvar 		1916890 11168.43 C T PASS 0/1 1008 None None None 0.43850 0.43850 0.41041 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs16824588
dbSNP Clinvar 		1900232 9784.56 T C PASS 1/1 347 None None None 0.38778 0.38780 0.43514 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs35269416
dbSNP Clinvar 		1900186 4591.62 T C PASS 0/1 428 None None None 0.15395 0.15400 0.16325 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs145742571,rs61233860
dbSNP Clinvar 		1900106 9121.73 T TCTC PASS 0/1 425 None None None 0.00180 0.19910 0.22042 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 . 156495521 2141.2 CAAAA C,... LowVariantFreq;R8 1/2 316 None None None None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs7523728
dbSNP Clinvar 		1895177 6972.97 C T PASS 0/1 600 None None None 0.16653 0.16650 0.21545 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs6427315
dbSNP Clinvar 		156496188 22563.43 A G PASS 1/1 809 None None None 0.93830 0.93830 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs746505
dbSNP Clinvar 		156500128 7565.58 T C PASS 1/1 233 None None None 0.45367 0.45370 0.29617 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs947663
dbSNP Clinvar 		156536353 12693.8 A G PASS 1/1 449 None None None 0.95986 0.95990 0.04244 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs3838975,rs796266880
dbSNP Clinvar 		1887111 13930.91 GC G PASS 0/1 839 None None None 0.18690 0.18690 0.21949 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs139735565
dbSNP Clinvar 		1887091 14098.08 CG C PASS 0/1 832 None None None 0.18810 0.18810 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs28548017
dbSNP Clinvar 		1887019 8918.51 A G PASS 0/1 766 None None None 0.79772 0.79770 0.19151 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs3795290
dbSNP Clinvar 		1886859 10164.02 C T PASS 0/1 828 None None None 0.18750 0.18750 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2748975
dbSNP Clinvar 		1886519 8745.68 C A PASS 0/1 910 MOTIF[MA0062.2:Gabp] MODIFIER 0.60743 0.60740 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2748976
dbSNP Clinvar 		1886501 219.54 C A LowVariantFreq 0/1 997 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2803286
dbSNP Clinvar 		1886385 10817.38 T C PASS 0/1 987 None None None 0.81010 0.81010 0.18966 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs201662806
dbSNP Clinvar 		1886346 10200.41 G C PASS 0/1 879 None None None None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs138344349
dbSNP Clinvar 		1886344 20536.56 A ACAG PASS 0/1 955 None None None None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2803287
dbSNP Clinvar 		1886222 9255.08 T G PASS 0/1 857 None None None 0.81030 0.81030 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs4648738
dbSNP Clinvar 		1886220 9358.0 C T PASS 0/1 859 None None None 0.37500 0.37500 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs112927199,rs74473635
dbSNP Clinvar 		1886204 19302.23 A AGAGT PASS 0/1 718 None None None 0.37021 0.37020 0.31393 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs2474455
dbSNP Clinvar 		1885055 6923.21 C T PASS 0/1 807 None None None 0.56889 0.56890 0.36816 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 . 1884735 494.69 CT C LowVariantFreq;R8 0/1 316 None None None None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs6427319
dbSNP Clinvar 		156539154 17707.64 T C PASS 1/1 699 None None None 0.99082 0.99080 0.01084 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs2501320
dbSNP Clinvar 		159860259 6919.56 G A PASS 0/1 557 None None None 0.18910 0.18910 0.26880 None None None None None None CFAP45|0.081179858|54.94%
View 20166-01-01_s20-kopie 1 rs10927386
dbSNP Clinvar 		245245378 2189.58 T C PASS 0/1 272 None None None 0.30172 0.30170 0.35860 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs1047707
dbSNP Clinvar 		245251020 5250.6 G T PASS 0/1 443 None None None 0.28974 0.28970 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs2748981
dbSNP Clinvar 		1873453 5144.99 G A PASS 0/1 546 None None None 0.59245 0.59250 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs4658695
dbSNP Clinvar 		245251140 5877.54 T G PASS 1/1 222 None None None 0.94129 0.94130 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 1 rs2803348
dbSNP Clinvar 		1854109 8732.75 A G PASS 0/1 729 None None None 0.59884 0.59880 0.46809 None None None None None None CFAP74|0.001720148|91.8%
View 20166-01-01_s20-kopie 1 rs113294876,rs3039777
dbSNP Clinvar 		1853615 58640.46 T TCTGA PASS 1/1 885 None None None 0.99980 0.99980 None None None None None None CFAP74|0.001720148|91.8%
  • Page 1 of 1