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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: 98
Number of Genes: 7

Export to: CSV
  • Page 1 of 1

C10orf71
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 10 . 50534969 136.19 AA... AA... PASS 2/2 3 None None None None None None None None None C10orf71|0.00488492|85.95%

C14orf23
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 29261309 1896.19 AAA AA... PASS 2/2 46 FRAME_SHIFT HIGH None None None None None None None LINC01551|0.030992921|68.96%

GYPE
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 4 rs1132785
dbSNP Clinvar 		144801662 2057.29 C G,T PASS 2/2 64 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.30891 0.30890 1.00 0.00 -1.88 None None None None None None GYPE|0.000492079|98.47%

KRI1
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 10676487 361.19 GC... GC... PASS 2/2 19 None None None None None None None None None KRI1|0.024995003|71.8%

MAML3
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 4 . 140811063 367.31 TT... TT... PASS 2/2 18 SYNONYMOUS_CODING+CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%

MUC4
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 3 rs74941663
dbSNP Clinvar 		195506091 4376.04 A C,T PASS 2/2 210 SYNONYMOUS_CODING LOW None 0.14297 0.14300 None None None None None None MUC4|0.005441696|85.29%

RPL14
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 3 . 40503520 958.19 AC... AC... PASS 2/2 22 CODON_INSERTION MODERATE None None None None None None None RPL14|0.064797243|58.69%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 159684047 333.19 CC... CC... PASS 2/2 7 None None None None None None None None None CRP|0.040740123|65.53%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 2 . 55071101 150.52 TT... TT... PASS 2/2 5 None None None None None None None None None EML6|0.392730178|21.22%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 2 . 183066377 133.94 CA... CA... PASS 2/2 10 None None None None None None None None None PDE1A|0.358249613|23.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 3 . 57335705 147.29 TA... TA... PASS 2/2 4 None None None None None None None None None DNAH12|0.248045233|31.71%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 3 . 58395490 1001.73 GT... GT... PASS 2/2 25 None None None None None None None None None PXK|0.375653665|22.34%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 3 . 193272442 611.56 CG... CG... PASS 2/2 16 None None None None None None None None None ATP13A4|0.189604914|37.86%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 4 . 95561651 228.73 GT... GT... PASS 2/2 16 None None None None None None None None None PDLIM5|0.641612713|10.4%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 . 13886243 19.68 CCAAA CC... PASS 2/2 4 None None None None None None None None None DNAH5|0.235040337|32.91%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 rs9273721
dbSNP Clinvar 		32629341 1124.29 C G,A PASS 2/2 28 None None None None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 . 44149153 262.49 CC... CC... PASS 2/2 11 None None None None None None None None None CAPN11|0.010375422|80.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 . 124759017 135.01 GA GG... PASS 2/2 5 None None None None None None None None None NKAIN2|0.96987707|1.72%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 7 . 50663299 543.73 TA... TA... PASS 2/2 1 None None None None None None None None None GRB10|0.773161711|6.48%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 8 . 88440715 82.29 CTT CT... PASS 2/2 3 None None None None None None None None None CNBD1|0.010944724|80.12%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 8 . 88440717 383.19 TT... TC... PASS 2/2 6 None None None None None None None None None CNBD1|0.010944724|80.12%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 8 rs67708571
dbSNP Clinvar 		145151665 4937.73 TG... TC... PASS 2/2 13 None None None None None None None None None CYC1|0.107950243|49.59%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 9 . 140161631 821.07 TG... TG... PASS 2/2 42 None None None None None None None None None NELFB|0.224884321|33.89%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 10 . 101420283 228.19 GC... GC... PASS 2/2 8 None None None None None None None None None ENTPD7|0.209407283|35.63%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 11 . 14486608 121.84 TA... TA... PASS 2/2 4 None None None None None None None None None COPB1|0.798459183|5.89%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 11 rs373853770
dbSNP Clinvar 		68566648 622.22 AAAA AC... PASS 2/2 30 None None None 0.19303 None None None None None None CPT1A|0.081912568|54.76%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 11 . 102585493 98.25 TT... TT... PASS 2/2 5 None None None None None None None None None MMP8|0.030128828|69.34%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 . 9021053 433.19 CG... CG... PASS 2/2 14 None None None None None None None None None A2ML1|0.011663794|79.48%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 rs147906569
dbSNP Clinvar 		49463356 3517.73 TC... TT... PASS 2/2 20 None None None None None None None None None RHEBL1|0.306464355|27.13%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 . 51707801 154.42 CT... CT... PASS 2/2 10 None None None None None None None None None BIN2|0.023359336|72.5%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 . 76462515 64.08 TA... TA... PASS 2/2 7 None None None None None None None None None NAP1L1|0.82796299|5.15%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 . 124124445 1140.99 CG... TG... PASS 2/2 57 None None None None None None None None None GTF2H3|0.100943319|51%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 23574095 1477.79 GG... GG... PASS 2/2 82 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 68191109 343.19 GT... GT... PASS 2/2 28 None None None None None None None None None RDH12|0.245292064|32%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 69444517 67.97 TC... TC... PASS 2/2 4 None None None None None None None None None ACTN1|0.514986607|15.15%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 92915625 236.12 TA... TA... PASS 2/2 21 None None None None None None None None None SLC24A4|0.11620336|48.1%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 16 . 50251671 96.37 GT... GT... PASS 2/2 1 None None None None None None None None None PAPD5|0.22795661|33.53%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 18 . 53131179 261.14 CT... CT... PASS 2/2 5 None None None None None None None None None TCF4|0.999272266|0.38%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 15932574 209.19 CC... CC... PASS 2/2 7 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 rs377067813
dbSNP Clinvar 		51331204 601.59 TG TT... PASS 2/2 29 None None None None None None None None None KLK15|0.010836674|80.23%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 20 . 2618033 35.88 CA... CA... PASS 2/2 8 None None None None None None None None None TMC2|0.074484913|56.41%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 20 . 2633378 1401.73 AG AG... PASS 2/2 15 None None None None None None None None None NOP56|0.577539421|12.69%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 20 . 52557934 104.27 GG... GG... PASS 2/2 2 None None None None None None None None None BCAS1|0.015654771|76.67%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 103471734 317.19 AA... AA... PASS 2/2 4 None None None None None None None None None COL11A1|0.697613912|8.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 22 . 17640176 786.19 GC... GC... PASS 2/2 44 None None None None None None None None None CECR5|0.017841954|75.38%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 110301766 940.19 AG... AG... PASS 2/2 24 None None None None None None None None None GSTM5|0.009497757|81.28%,EPS8L3|0.013583387|78.12%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 47402487 3529.2 TT... TT... PASS 2/2 112 None None None None None None None None None CYP4A11|0.010175947|80.74%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 84765340 76.37 GT... GT... PASS 2/2 3 None None None None None None None None None SAMD13|0.391986348|21.28%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 145532010 409.19 CT... CT... PASS 2/2 12 None None None None None None None None None ITGA10|0.19922526|36.8%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 156845492 425.19 AG... AG... PASS 2/2 12 None None None None None None None None None NTRK1|0.341411283|24.74%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 201966894 83.77 GT... GT... PASS 2/2 12 None None None None None None None None None RNPEP|0.053664579|61.56%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 2 . 46583277 128.53 CCCCC CC... PASS 2/2 6 None None None None None None None None None EPAS1|0.56101019|13.31%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 3 . 52559167 892.38 CG... CG... PASS 2/2 44 None None None None None None None None None NT5DC2|0.183780628|38.54%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 . 117329051 842.73 TA TA... PASS 2/2 14 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 . 176517136 1300.19 CG... CG... PASS 2/2 42 None None None None None None None None None FGFR4|0.436435134|18.87%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 rs1655894
dbSNP Clinvar 		29912493 2721.29 G A,T PASS 2/2 62 None None None 0.19269 0.73240 None None None None None None HLA-A|0.043055872|64.8%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 7 . 83021799 164.2 TA... TA... PASS 2/2 22 None None None None None None None None None SEMA3E|0.36164343|23.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 7 rs77025884
dbSNP Clinvar 		148106477 657.55 C G,T PASS 2/2 6 None None None None None None None None None CNTNAP2|0.836009361|4.94%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 10 . 72509364 168.2 AG... AG... PASS 2/2 9 None None None None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 . 95500700 824.19 AAA AA... PASS 2/2 30 None None None None None None None None None FGD6|0.090862537|53.07%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 . 100478156 122.19 TC... TC... PASS 2/2 5 None None None None None None None None None UHRF1BP1L|0.297863685|27.82%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 15 . 34820343 85.25 AC... AC... PASS 2/2 12 None None None None None None None None None GOLGA8A|0.001476109|92.88%,GOLGA8B|0.00187481|91.31%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 16 rs75418123
dbSNP Clinvar 		71956592 2307.73 A AA... PASS 2/2 24 None None None None None None None None None IST1|0.589563017|12.15%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 17 . 13399486 558.19 AT... AT... PASS 2/2 33 None None None None None None None None None HS3ST3A1|0.149000914|43.13%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 18 . 33024025 668.73 AG... AG... PASS 2/2 31 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 14992178 783.19 CT... CT... PASS 2/2 18 None None None None None None None None None OR7A17|0.00164094|92.16%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 55488178 186.88 CT CT... PASS 2/2 2 None None None None None None None None None NLRP2|0.00098896|95.49%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 20 rs6062431
dbSNP Clinvar 		61918164 1031.29 C G,T PASS 2/2 37 None None None 0.03934 0.69030 None None None None None None ARFGAP1|0.038035061|66.43%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 22 . 45580569 308.17 GTTG GT... PASS 2/2 12 None None None None None None None None None NUP50|0.088425037|53.55%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 rs2292990
dbSNP Clinvar 		32136168 1579.29 G C,T PASS 2/2 53 None None None 0.34046 0.44370 None None None None None None COL16A1|0.160017905|41.54%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 22 . 45718922 327.19 CT... CT... PASS 2/2 5 None None None None None None None None None FAM118A|0.047665341|63.43%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 36784499 178.19 AA... AA... PASS 2/2 4 None None None None None None None None None SH3D21|0.003503516|87.78%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 2 . 211163063 54.98 TA... TA... PASS 2/2 1 None None None None None None None None None MYL1|0.569568258|13.02%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 4 rs66848322
dbSNP Clinvar 		5017149 257.95 TC TT... PASS 2/2 19 None None None None None None None None None CYTL1|0.016060384|76.44%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 4 . 74464285 435.19 TT... TT... PASS 2/2 15 None None None None None None None None None RASSF6|0.071491999|57.09%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 . 3076929 249.47 AAA AA... PASS 2/2 11 None None None None None None None None None RIPK1|0.094475501|52.24%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 . 32489578 100.8 CC... CC... PASS 2/2 10 None None None None None None None None None HLA-DRB5|0.020830666|73.74%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 . 105300074 214.82 CT... CT... PASS 2/2 6 None None None None None None None None None HACE1|0.579561368|12.61%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 6 . 105300103 63.84 TGC TG... PASS 2/2 7 None None None None None None None None None HACE1|0.579561368|12.61%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 7 . 44250279 1022.19 GC... GC... PASS 2/2 32 None None None None None None None None None YKT6|0.173715852|39.83%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 7 rs28654698
dbSNP Clinvar 		100550766 1443.77 A C,T PASS 2/2 102 None None None 1.00000 1.00000 None None None None None None MUC3A|0.001683398|91.94%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 7 . 151668180 38.87 CT... CT... PASS 2/2 5 None None None None None None None None None GALNTL5|0.001268389|94.06%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 8 . 25265380 45.19 CA... CA... PASS 2/2 9 None None None None None None None None None DOCK5|0.411645611|20.08%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 9 . 38414030 393.19 TC... TC... PASS 2/2 16 None None None None None None None None None IGFBPL1|0.012302265|79.03%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 9 . 125487370 161.56 TT... TT... PASS 2/2 9 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 9 . 137742538 267.44 GA... GA... PASS 2/2 15 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 9 . 137982232 1247.84 TT... GT... PASS 2/2 29 None None None None None None None None None OLFM1|0.232549612|33.15%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 10 . 93719497 119.58 GT... GT... PASS 2/2 9 None None None None None None None None None BTAF1|0.83441814|5%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 11 . 72361920 1056.19 TA... TA... PASS 2/2 2 None None None None None None None None None PDE2A|0.280547949|29.06%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 12 . 109458559 80.0 AC... AC... PASS 2/2 5 None None None None None None None None None SVOP|0.286454914|28.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 35602445 1465.19 TG... TG... PASS 2/2 28 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 55049086 90.99 GA... GA... PASS 2/2 3 None None None None None None None None None KIR3DX1|0.000180892|99.81%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 21 . 30391671 153.19 GA... GA... PASS 2/2 10 None None None None None None None None None RWDD2B|0.047969029|63.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 22 . 42390887 46.25 CT... CT... PASS 2/2 5 None None None None None None None None None SEPT3|0.2755259|29.47%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 2 . 7170388 330.73 CT... CT... PASS 2/2 3 None None None None None None None None None RNF144A|0.230316059|33.35%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS Y rs111804532
dbSNP Clinvar 		13489393 1441.4 T A,G PASS 2/2 77 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 2 . 88409719 276.19 AG... AG... PASS 2/2 32 None None None None None None None None None SMYD1|0.198874438|36.84%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 2 . 202149398 49.1 AG... AC... PASS 2/2 2 None None None None None None None None None CASP8|0.814767746|5.46%
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