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+ Genes 28

+ Genes associated with diseases 13

Genes at Omim

ARMC4, CCDC114, CCDC40, CCDC65, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DRC1, GAS8, HYDIN, NME8,
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCDC65 Ciliary dyskinesia, primary, 27, 615504 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DRC1 Ciliary dyskinesia, primary, 21, 615294 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)

Genes at Clinical Genomics Database

ARMC4, CCDC114, CCDC40, CCDC65, DNAAF1, DNAAF2, DNAH11, DNAH5, GAS8, NME8,
ARMC4 Ciliary dyskinesia, primary, 23
CCDC114 Ciliary dyskinesia, primary, 20
CCDC40 Ciliary dyskinesia, primary, 15
CCDC65 Ciliary dyskinesia, primary, 27
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
GAS8 Ciliary dyskinesia, primary, 33
NME8 Ciliary dyskinesia, primary, 6

Genes at HGMD

Summary

Number of Variants: 126
Number of Genes: 28

Export to: CSV

ARMC4
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 20162-01-01_s17-kopie 10 rs7893462
dbSNP Clinvar 		28228865 17337.83 A G PASS 1/1 641 SYNONYMOUS_CODING LOW SILENT 0.53315 0.53310 0.49193 None None None None None None ARMC4|0.02617115|71.23%

C10orf107
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 20162-01-01_s17-kopie 10 rs1992625
dbSNP Clinvar 		63520698 19400.36 T C PASS 1/1 734 SYNONYMOUS_CODING LOW SILENT 0.87201 0.87200 0.18156 None None None None None None C10orf107|0.277213376|29.34%

C7orf63
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 20162-01-01_s17-kopie 7 rs7803620
dbSNP Clinvar 		89938588 2161.69 C G PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92213 0.92210 0.14475 1.00 0.00 None None None None None None CFAP69|0.131174602|45.73%
View 20162-01-01_s17-kopie 7 rs1029365
dbSNP Clinvar 		89912301 14995.22 G A PASS 1/1 524 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88419 0.88420 0.20474 0.69 0.01 None None None None None None CFAP69|0.131174602|45.73%
View 20162-01-01_s17-kopie 7 rs1134956
dbSNP Clinvar 		89938680 2502.59 C T PASS 1/1 98 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.38059 0.38060 0.49745 0.00 1.00 None None None None None None CFAP69|0.131174602|45.73%

CCDC114
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 20162-01-01_s17-kopie 19 rs7252988
dbSNP Clinvar 		48800338 25704.61 A G PASS 1/1 967 SYNONYMOUS_CODING LOW SILENT 0.46466 0.46470 0.37744 None None None None None None CCDC114|0.001933114|91.16%

CCDC40
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 20162-01-01_s17-kopie 17 rs2289527
dbSNP Clinvar 		78013724 24259.13 G C PASS 1/1 837 SYNONYMOUS_CODING LOW SILENT 0.95727 0.95730 0.00622 None None None None None None CCDC40|0.000987297|95.52%

CCDC65
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 20162-01-01_s17-kopie 12 rs4760600
dbSNP Clinvar 		49314994 17953.43 A G PASS 1/1 653 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30811 0.30810 0.30617 0.00 1.00 None None None None None None CCDC65|0.09413439|52.33%
View 20162-01-01_s17-kopie 12 rs10747556
dbSNP Clinvar 		49308284 24807.24 A G PASS 1/1 945 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30990 0.30990 0.30747 0.53 0.00 None None None None None None CCDC65|0.09413439|52.33%
View 20162-01-01_s17-kopie 12 rs10875893
dbSNP Clinvar 		49312593 17662.05 A G PASS 1/1 660 SYNONYMOUS_CODING LOW SILENT 0.30771 0.30770 0.30632 None None None None None None CCDC65|0.09413439|52.33%
View 20162-01-01_s17-kopie 12 rs10875894
dbSNP Clinvar 		49314862 5463.19 C A PASS 1/1 151 SYNONYMOUS_CODING LOW SILENT 0.30831 0.30830 0.30532 None None None None None None CCDC65|0.09413439|52.33%

DNAAF1
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 20162-01-01_s17-kopie 16 rs17856705
dbSNP Clinvar 		84203612 17940.06 A G PASS 1/1 621 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32109 0.32110 0.37875 0.18 0.00 None None None None None None DNAAF1|0.000486573|98.51%

DNAAF2
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 20162-01-01_s17-kopie 14 rs2985684
dbSNP Clinvar 		50101682 19668.85 C G PASS 1/1 735 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49321 0.49320 0.28662 0.07 0.57 None None None None None None DNAAF2|0.034155944|67.73%
View 20162-01-01_s17-kopie 14 rs9989177
dbSNP Clinvar 		50092471 13862.66 T C PASS 1/1 498 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30871 0.30870 0.42073 0.08 0.08 None None None None None None DNAAF2|0.034155944|67.73%
View 20162-01-01_s17-kopie 14 rs2985687
dbSNP Clinvar 		50100386 32876.05 T C PASS 1/1 1208 SYNONYMOUS_CODING LOW SILENT 0.48822 0.48820 0.33364 None None None None None None DNAAF2|0.034155944|67.73%
View 20162-01-01_s17-kopie 14 rs2985686
dbSNP Clinvar 		50100683 4141.09 C G PASS 1/1 174 SYNONYMOUS_CODING LOW SILENT 0.55911 0.55910 None None None None None None DNAAF2|0.034155944|67.73%
View 20162-01-01_s17-kopie 14 rs2985685
dbSNP Clinvar 		50101370 22075.31 G A PASS 1/1 868 SYNONYMOUS_CODING LOW SILENT 0.49341 0.49340 0.31475 None None None None None None DNAAF2|0.034155944|67.73%

DNAAF3
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 20162-01-01_s17-kopie 19 rs890872
dbSNP Clinvar 		55671337 22695.21 C T PASS 1/1 889 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.69 0.00 None None None None None None DNAAF3|0.005278927|85.46%

DNAH11
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 20162-01-01_s17-kopie 7 rs4722064
dbSNP Clinvar 		21893993 5837.19 G T PASS 1/1 223 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45947 0.45950 0.40101 0.02 0.28 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs6461613
dbSNP Clinvar 		21924014 7667.52 A G PASS 1/1 276 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62240 0.62240 0.28325 0.19 0.01 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs4722067
dbSNP Clinvar 		21901566 22403.57 T C PASS 1/1 815 SYNONYMOUS_CODING LOW SILENT 0.63439 0.63440 0.24229 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs9639393
dbSNP Clinvar 		21779278 9582.67 A G PASS 1/1 338 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37280 0.37280 0.46862 0.06 0.08 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs1109806
dbSNP Clinvar 		21778449 6186.31 C T PASS 1/1 211 SYNONYMOUS_CODING LOW SILENT 0.53954 0.53950 0.33524 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs2072221
dbSNP Clinvar 		21775443 20063.41 G A PASS 1/1 681 SYNONYMOUS_CODING LOW SILENT 0.01118 0.75540 0.14250 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs12536928
dbSNP Clinvar 		21765452 13797.43 C T PASS 1/1 497 SYNONYMOUS_CODING LOW SILENT 0.36282 0.36280 0.43883 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs3827657
dbSNP Clinvar 		21641218 17636.31 G A PASS 1/1 657 SYNONYMOUS_CODING LOW SILENT 0.75379 0.75380 0.19933 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs10224537
dbSNP Clinvar 		21640405 21402.09 A G PASS 1/1 739 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76777 0.76780 0.18471 0.55 0.00 None None None None None None DNAH11|0.38215847|21.9%
View 20162-01-01_s17-kopie 7 rs6963535
dbSNP Clinvar 		21628237 5473.59 C T PASS 1/1 208 SYNONYMOUS_CODING LOW SILENT 0.99062 0.99060 0.00987 None None None None None None DNAH11|0.38215847|21.9%

DNAH5
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 20162-01-01_s17-kopie 5 rs339445
dbSNP Clinvar 		13944512 15130.5 A C PASS 1/1 556 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91294 0.91290 0.07443 1.00 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20162-01-01_s17-kopie 5 rs7703349
dbSNP Clinvar 		13865980 11275.29 T C PASS 1/1 432 SYNONYMOUS_CODING LOW SILENT 0.46865 0.46870 0.49831 None None None None None None DNAH5|0.235040337|32.91%
View 20162-01-01_s17-kopie 5 rs6554827
dbSNP Clinvar 		13864728 11340.81 C A PASS 1/1 396 SYNONYMOUS_CODING LOW SILENT 0.39928 None None None None None None DNAH5|0.235040337|32.91%

DNAH9
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 20162-01-01_s17-kopie 17 rs9892256
dbSNP Clinvar 		11523082 20880.65 A G PASS 1/1 740 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99022 0.99020 0.00823 1.00 0.00 None None None None None None DNAH9|0.176098085|39.51%
View 20162-01-01_s17-kopie 17 rs8071438
dbSNP Clinvar 		11583089 22628.11 T C PASS 1/1 802 SYNONYMOUS_CODING LOW SILENT 0.94788 0.94790 0.03168 None None None None None None DNAH9|0.176098085|39.51%

DRC1
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 20162-01-01_s17-kopie 2 rs1402962
dbSNP Clinvar 		26676322 23604.03 A G PASS 1/1 844 SYNONYMOUS_CODING LOW SILENT 0.99441 0.99440 0.00469 None None None None None None DRC1|0.021378182|73.5%
View 20162-01-01_s17-kopie 2 rs7423300
dbSNP Clinvar 		26647277 17027.31 T G PASS 1/1 580 SYNONYMOUS_CODING LOW SILENT 0.62340 0.62340 0.21429 None None None None None None DRC1|0.021378182|73.5%
View 20162-01-01_s17-kopie 2 rs939820
dbSNP Clinvar 		26667615 22842.07 T C PASS 1/1 845 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00200 1.00 0.00 None None None None None None DRC1|0.021378182|73.5%

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 20162-01-01_s17-kopie 1 rs10927387
dbSNP Clinvar 		245245402 5707.46 C T PASS 1/1 202 SYNONYMOUS_CODING LOW SILENT 0.28934 0.28930 0.34638 None None None None None None EFCAB2|0.09874582|51.4%

FBXL13
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 20162-01-01_s17-kopie 7 rs7805950
dbSNP Clinvar 		102668001 7405.37 A C PASS 1/1 253 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96625 0.96630 0.02968 0.27 0.00 None None None None None None FBXL13|0.013552601|78.17%

GAS8
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 20162-01-01_s17-kopie 16 rs3743825
dbSNP Clinvar 		90109711 24089.25 A G PASS 1/1 845 SYNONYMOUS_CODING LOW SILENT 0.84425 0.84420 0.17082 None None None None None None GAS8|0.279441552|29.14%

HYDIN
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 20162-01-01_s17-kopie 16 rs1798531
dbSNP Clinvar 		70954915 32768.66 G T PASS 1/1 1165 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99900 0.99900 0.00627 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20162-01-01_s17-kopie 16 rs1774266
dbSNP Clinvar 		70993566 43360.0 A G PASS 1/1 1543 SYNONYMOUS_CODING LOW SILENT 0.43910 0.43910 None None None None None None HYDIN|0.080749251|55.02%

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 20162-01-01_s17-kopie 1 rs1171547
dbSNP Clinvar 		156532977 24100.84 T C PASS 1/1 911 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20162-01-01_s17-kopie 1 rs947662
dbSNP Clinvar 		156536251 21919.82 T C PASS 1/1 812 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20162-01-01_s17-kopie 1 rs2066377
dbSNP Clinvar 		156536221 16691.91 G C PASS 1/1 593 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20162-01-01_s17-kopie 1 rs2488269
dbSNP Clinvar 		156526444 22627.21 T C PASS 1/1 803 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%

LRGUK
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 20162-01-01_s17-kopie 7 rs1222419
dbSNP Clinvar 		133868507 14378.24 C T PASS 1/1 525 SYNONYMOUS_CODING LOW SILENT 0.99321 0.99320 0.00815 None None None None None None LRGUK|0.024956796|71.82%

LRRC48
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 20162-01-01_s17-kopie 17 rs4584886
dbSNP Clinvar 		17896205 5318.49 C T PASS 1/1 193 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58207 0.58210 0.35099 0.00 0.96 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20162-01-01_s17-kopie 17 rs4368210
dbSNP Clinvar 		17896090 7504.34 C T PASS 1/1 287 SYNONYMOUS_CODING LOW SILENT 0.58187 0.58190 0.35384 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%

NME8
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 20162-01-01_s17-kopie 7 rs10250905
dbSNP Clinvar 		37907304 11733.92 T C PASS 1/1 400 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.74341 0.74340 0.21290 0.00 0.00 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%

PCDP1
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 20162-01-01_s17-kopie 2 rs10864986
dbSNP Clinvar 		120369300 9464.19 T C PASS 1/1 334 SYNONYMOUS_CODING LOW SILENT 0.98383 0.98380 0.01392 None None None None None None None
View 20162-01-01_s17-kopie 2 rs2272058
dbSNP Clinvar 		120388412 18928.45 G A PASS 1/1 703 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97624 0.97620 0.02276 0.64 0.00 None None None None None None None
View 20162-01-01_s17-kopie 2 rs2579624
dbSNP Clinvar 		120303820 11698.22 A T PASS 1/1 413 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59086 0.59090 0.21 0.50 None None None None None None None

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 20162-01-01_s17-kopie 1 rs7542813
dbSNP Clinvar 		245133539 7263.26 A G PASS 1/1 266 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None EFCAB2|0.09874582|51.4%

SPEF2
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 20162-01-01_s17-kopie 5 rs2270558
dbSNP Clinvar 		35654711 21621.31 C T PASS 1/1 805 SYNONYMOUS_CODING LOW SILENT 0.67712 0.67710 0.40804 None None None None None None SPEF2|0.057634008|60.51%
View 20162-01-01_s17-kopie 5 rs13170390
dbSNP Clinvar 		35709184 9502.5 G C PASS 1/1 342 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24391 0.32 0.00 None None None None None None SPEF2|0.057634008|60.51%
View 20162-01-01_s17-kopie 5 rs7706444
dbSNP Clinvar 		35644621 9702.23 T C PASS 1/1 350 SYNONYMOUS_CODING LOW SILENT 0.78415 0.78410 0.31537 None None None None None None SPEF2|0.057634008|60.51%
View 20162-01-01_s17-kopie 5 rs13170082
dbSNP Clinvar 		35709095 8487.23 C T PASS 1/1 313 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24344 0.56 0.00 None None None None None None SPEF2|0.057634008|60.51%
View 20162-01-01_s17-kopie 5 rs6897513
dbSNP Clinvar 		35641582 17409.77 A C PASS 1/1 615 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67911 0.67910 0.40428 1.00 0.00 None None None None None None SPEF2|0.057634008|60.51%

STK36
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 20162-01-01_s17-kopie 2 rs1863704
dbSNP Clinvar 		219562675 17340.89 G A PASS 1/1 618 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18970 0.18970 0.27833 0.66 0.08 None None None None None None STK36|0.159611866|41.62%
View 20162-01-01_s17-kopie 2 rs1344642
dbSNP Clinvar 		219555262 14498.02 G A PASS 1/1 506 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42173 0.42170 0.49416 0.50 0.00 None None None None None None STK36|0.159611866|41.62%

TCTE1
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 20162-01-01_s17-kopie 6 rs516582
dbSNP Clinvar 		44250165 34480.49 A G PASS 1/1 1175 SYNONYMOUS_CODING LOW SILENT 0.64157 0.64160 0.28487 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%
View 20162-01-01_s17-kopie 6 rs324143
dbSNP Clinvar 		44253749 31203.61 A G PASS 1/1 1153 SYNONYMOUS_CODING LOW SILENT 0.87979 0.87980 0.12048 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%
View 20162-01-01_s17-kopie 6 rs324146
dbSNP Clinvar 		44255459 25974.47 G A PASS 1/1 907 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64457 0.64460 0.27972 0.21 0.00 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%
View 20162-01-01_s17-kopie 6 rs484757
dbSNP Clinvar 		44247951 18358.39 T G PASS 1/1 643 SYNONYMOUS_CODING LOW SILENT 0.88359 0.88360 0.11987 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%

TTC40
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 20162-01-01_s17-kopie 10 rs7075277
dbSNP Clinvar 		134722022 15278.41 A G PASS 1/1 576 SYNONYMOUS_CODING LOW SILENT 0.58107 0.58110 None None None None None None CFAP46|0.002457988|89.78%
View 20162-01-01_s17-kopie 10 rs4880433
dbSNP Clinvar 		134646988 17069.17 C T PASS 1/1 638 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31989 0.31990 0.32539 0.03 0.11 None None None None None None CFAP46|0.002457988|89.78%
View 20162-01-01_s17-kopie 10 rs7908950
dbSNP Clinvar 		134682855 26752.13 C T PASS 1/1 958 SYNONYMOUS_CODING LOW SILENT 0.31310 0.31310 None None None None None None CFAP46|0.002457988|89.78%
View 20162-01-01_s17-kopie 10 rs4880467
dbSNP Clinvar 		134726621 30261.32 G C PASS 1/1 1085 SYNONYMOUS_CODING LOW SILENT 0.28654 0.28650 None None None None None None CFAP46|0.002457988|89.78%

ZBBX
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 20162-01-01_s17-kopie 3 rs4257551
dbSNP Clinvar 		167077691 8716.09 T A PASS 1/1 300 SYNONYMOUS_CODING LOW SILENT 0.99940 0.99940 0.00398 None None None None None None ZBBX|0.013746887|78.06%
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 20162-01-01_s17-kopie 1 rs113294876,rs3039777
dbSNP Clinvar 		1853615 59401.71 T TCTGA PASS 1/1 898 None None None 0.99980 0.99980 None None None None None None CFAP74|0.001720148|91.8%
View 20162-01-01_s17-kopie 17 rs4924832
dbSNP Clinvar 		17897739 21772.71 T C PASS 1/1 767 None None None 0.63259 0.63260 0.36063 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20162-01-01_s17-kopie 17 rs7219320
dbSNP Clinvar 		17880877 16688.86 A G PASS 1/1 565 None None None 0.66554 0.66550 0.42350 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20162-01-01_s17-kopie 17 rs11078409
dbSNP Clinvar 		17876296 22845.64 C G PASS 1/1 794 None None None 0.58566 0.58570 None None None None None None LRRC48|0.058782797|60.21%
View 20162-01-01_s17-kopie 17 rs3760435
dbSNP Clinvar 		11786291 14642.58 A G PASS 1/1 547 None None None 0.65475 0.65480 None None None None None None DNAH9|0.176098085|39.51%
View 20162-01-01_s17-kopie 17 rs917507
dbSNP Clinvar 		11501730 10199.88 C A PASS 1/1 417 None None None 0.99681 0.99680 None None None None None None None
View 20162-01-01_s17-kopie 16 rs1354548
dbSNP Clinvar 		70995845 28352.58 C T PASS 1/1 997 None None None 0.54952 0.54950 None None None None None None HYDIN|0.080749251|55.02%
View 20162-01-01_s17-kopie 15 rs808730
dbSNP Clinvar 		56721406 2225.48 C T PASS 1/1 82 None None None 0.99920 0.99920 0.00154 None None None None None None TEX9|0.079650795|55.26%,MNS1|0.063037216|59.09%
View 20162-01-01_s17-kopie 15 rs795787
dbSNP Clinvar 		56721264 4942.61 G A PASS 1/1 169 None None None 0.99920 0.99920 0.00154 None None None None None None TEX9|0.079650795|55.26%,MNS1|0.063037216|59.09%
View 20162-01-01_s17-kopie 14 rs7155268
dbSNP Clinvar 		74169995 1708.47 C T PASS 1/1 48 None None None 0.86661 0.86660 None None None None None None DNAL1|0.410951405|20.13%
View 20162-01-01_s17-kopie 14 rs1043732
dbSNP Clinvar 		74168625 5272.21 G A PASS 1/1 141 None None None 0.86621 0.86620 None None None None None None DNAL1|0.410951405|20.13%
View 20162-01-01_s17-kopie 14 rs398025673
dbSNP Clinvar 		74167061 14235.74 GA G R8 1/1 592 None None None 0.85563 0.85560 None None None None None None DNAL1|0.410951405|20.13%
View 20162-01-01_s17-kopie 14 rs1860576
dbSNP Clinvar 		74165516 10481.21 A G PASS 1/1 354 None None None 0.86661 0.86660 None None None None None None DNAL1|0.410951405|20.13%
View 20162-01-01_s17-kopie 14 rs4903140
dbSNP Clinvar 		74165101 12079.42 A T PASS 1/1 396 None None None 0.86661 0.86660 None None None None None None DNAL1|0.410951405|20.13%
View 20162-01-01_s17-kopie 14 rs12160
dbSNP Clinvar 		50091932 550.45 T A LowDP 1/1 19 None None None 0.54153 0.54150 None None None None None None DNAAF2|0.034155944|67.73%
View 20162-01-01_s17-kopie 13 rs2988039
dbSNP Clinvar 		79766188 2361.72 A G PASS 1/1 95 None None None 0.50659 0.50660 0.38272 None None None None None None None
View 20162-01-01_s17-kopie 12 rs3809147
dbSNP Clinvar 		49298059 19430.39 G A PASS 1/1 688 None None None 0.30831 0.30830 None None None None None None CCDC65|0.09413439|52.33%
View 20162-01-01_s17-kopie 11 rs7943098
dbSNP Clinvar 		101954774 14033.31 G A PASS 1/1 493 None None None 0.48283 0.48280 None None None None None None C11orf70|0.1597499|41.59%
View 20162-01-01_s17-kopie 11 rs7933260
dbSNP Clinvar 		101954773 13965.55 T C PASS 1/1 492 None None None 0.62680 0.62680 None None None None None None C11orf70|0.1597499|41.59%
View 20162-01-01_s17-kopie 11 rs6590946
dbSNP Clinvar 		101954459 9101.53 C T PASS 1/1 319 None None None 0.59984 0.59980 None None None None None None C11orf70|0.1597499|41.59%
View 20162-01-01_s17-kopie 11 rs6590945
dbSNP Clinvar 		101954300 7002.94 G T PASS 1/1 220 None None None 0.59964 0.59960 None None None None None None C11orf70|0.1597499|41.59%
View 20162-01-01_s17-kopie 11 rs12804542
dbSNP Clinvar 		101918327 13494.57 A G PASS 1/1 517 None None None 0.96725 0.96730 None None None None None None C11orf70|0.1597499|41.59%
View 20162-01-01_s17-kopie 10 rs12254100
dbSNP Clinvar 		134726335 16788.34 T C PASS 1/1 583 None None None 0.38459 0.38460 None None None None None None CFAP46|0.002457988|89.78%
View 20162-01-01_s17-kopie 10 rs151189963
dbSNP Clinvar 		63422754 49226.52 G GG... PASS 1/1 312 None None None 0.98982 0.98980 None None None None None None C10orf107|0.277213376|29.34%
View 20162-01-01_s17-kopie 10 rs147333449,rs869075883
dbSNP Clinvar 		28101113 23601.3 CTT C PASS 1/1 530 None None None 0.56410 0.56410 None None None None None None ARMC4|0.02617115|71.23%
View 20162-01-01_s17-kopie 8 rs1393978
dbSNP Clinvar 		107236280 5731.96 G T PASS 1/1 211 None None None 0.60963 0.60960 None None None None None None None
View 20162-01-01_s17-kopie 7 rs12375075
dbSNP Clinvar 		89940331 8164.82 G A PASS 1/1 286 None None None 0.46765 0.46770 None None None None None None CFAP69|0.131174602|45.73%
View 20162-01-01_s17-kopie 7 rs2722330
dbSNP Clinvar 		37939984 3748.03 G A PASS 1/1 112 None None None 0.98502 0.98500 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%
View 20162-01-01_s17-kopie 7 rs4720262
dbSNP Clinvar 		37888627 19658.32 C T PASS 1/1 764 None None None 0.16014 0.16010 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%
View 20162-01-01_s17-kopie 7 rs62432898
dbSNP Clinvar 		826102 5162.11 G A PASS 1/1 187 None None None 0.83666 0.83670 None None None None None None DNAAF5|0.006014089|84.58%
View 20162-01-01_s17-kopie 7 rs9195
dbSNP Clinvar 		825786 7087.28 T C PASS 1/1 215 None None None 0.75379 0.75380 None None None None None None DNAAF5|0.006014089|84.58%