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+ Genes 3

Genes:
GPX1, GYPE, PAH,

+ Genes associated with diseases 2

Genes at Omim

GPX1, PAH,
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)

Genes at Clinical Genomics Database

PAH,
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild

Genes at HGMD

Summary

Number of Variants: 57
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

GPX1
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 62408779_s7 mvar 62408779_S7.FREEBAYES 3 . 49395673 3825.73 GG... GG... PASS 2/1 94 CODON_DELETION MODERATE None None None None None None None GPX1|0.756845833|6.93%

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 62408779_s7 mvar 62408779_S7.FREEBAYES 4 rs1132785
dbSNP Clinvar 		144801662 700.77 C T,G PASS 2/1 65 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.30891 0.30890 0.84 0.00 None None None None None None GYPE|0.000492079|98.47%

PAH
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 62408779_s7 mvar 62408779_S7.FREEBAYES 12 rs772897
dbSNP Clinvar 		103237468 1630.77 G T,C PASS 2/1 61 SYNONYMOUS_CODING LOW None 0.84026 0.84030 0.17284 None None None None None None PAH|0.397123463|20.97%
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 62408779_s7 mvar 62408779_S7.FREEBAYES 4 . 87812586 474.73 TA... TA... PASS 2/1 14 None None None None None None None None None C4orf36|0.004973554|85.85%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 6 rs62405578
dbSNP Clinvar 		32498126 798.77 T G,A PASS 2/1 34 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.FREEBAYES 7 . 6037057 137.73 GA... GA... PASS 2/1 12 None None None None None None None None None PMS2|0.061509857|59.43%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 7 . 12375667 520.73 GT... GT... PASS 2/1 14 None None None None None None None None None VWDE|0.014104761|77.81%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 7 . 22896340 393.73 AC... AC... PASS 2/1 11 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.FREEBAYES 8 . 23049136 148.73 TA... TA... PASS 2/1 15 None None None None None None None None None TNFRSF10A|0.000282843|99.48%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 9 . 97219735 465.73 AT... AT... PASS 2/1 23 None None None None None None None None None HIATL1|0.074763262|56.34%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 11 rs12794886
dbSNP Clinvar 		62383715 23.58 G C,A PASS 2/1 15 None None None 0.77576 0.77580 None None None None None None B3GAT3|0.217213529|34.7%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 13 . 28602226 843.73 AA... AA... PASS 2/1 25 None None None None None None None None None FLT3|0.691934663|8.71%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 13 . 28647489 105.73 GA... GA... PASS 2/1 13 None None None None None None None None None FLT3|0.691934663|8.71%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 2 . 196756535 371.73 GA... GA... PASS 2/1 13 None None None None None None None None None DNAH7|0.112187885|48.83%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 16 . 71956588 1997.73 GT... GT... PASS 2/1 131 None None None None None None None None None IST1|0.589563017|12.15%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 1 . 55080612 2082.73 GG... GG... PASS 2/1 67 None None None None None None None None None ACOT11|0.083532045|54.52%,FAM151A|0.008566095|82.1%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 1 . 85930272 490.73 GA... GA... PASS 2/1 17 None None None None None None None None None DDAH1|0.655998313|9.87%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 1 . 158580921 245.73 GC... GC... PASS 2/1 10 None None None None None None None None None SPTA1|0.026631928|71.06%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 2 . 20401858 32.71 TA... TA... PASS 2/1 5 None None None None None None None None None SDC1|0.041907407|65.13%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 2 . 179634376 151.73 GT... GT... PASS 2/1 20 None None None None None None None None None TTN|0.331370966|25.39%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 4 . 73933671 697.73 AT... AT... PASS 2/1 20 None None None None None None None None None COX18|0.044414214|64.37%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 6 . 17777614 134.84 CT... CT... PASS 2/1 21 None None None None None None None None None KIF13A|0.154932935|42.3%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 6 rs9264671
dbSNP Clinvar 		31239752 1603.77 C T,A PASS 2/1 48 None None None 0.13139 0.13140 0.30809 None None None None None None HLA-C|0.028815016|70%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 7 . 99711461 2879.73 AC... AC... PASS 2/1 79 None None None None None None None None None TAF6|0.235485482|32.85%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 7 . 100355708 295.73 CA... CA... PASS 2/1 8 None None None None None None None None None ZAN|0.002173013|90.5%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 9 . 139946896 191.73 TC... TC... PASS 2/1 48 None None None None None None None None None ENTPD2|0.020384427|73.98%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 11 . 6637739 265.73 AT... AT... PASS 2/1 50 None None None None None None None None None TPP1|0.137258141|44.82%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 12 . 10146005 55.73 CA... CA... PASS 2/1 22 None None None None None None None None None CLEC12A|0.000649991|97.54%,CLEC1B|0.007200459|83.3%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 16 . 5037498 139.8 TG... TG... PASS 2/1 26 None None None None None None None None None SEC14L5|0.039278315|66.01%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 17 . 17714717 126.87 GA... GA... PASS 2/1 16 None None None None None None None None None RAI1|0.119478135|47.54%,SREBF1|0.208630723|35.75%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 17 . 39594934 3613.73 AC... AC... PASS 2/1 138 None None None None None None None None None KRT38|0.008684534|81.96%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 22 . 22057997 1235.73 CGG CG... PASS 2/1 36 None None None None None None None None None YPEL1|0.146114817|43.57%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 22 . 39882149 62.14 AT... AT... PASS 2/1 13 None None None None None None None None None MGAT3|0.081152391|54.95%
View 62408779_s7 mvar 62408779_S7.FREEBAYES Y rs75512131
dbSNP Clinvar 		13488215 152.03 C G,A PASS 2/1 10 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.FREEBAYES Y rs376970508
dbSNP Clinvar 		13489528 139.77 C G,A PASS 2/1 36 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.FREEBAYES 1 . 1323945 256.74 GT... GT... PASS 2/1 13 None None None None None None None None None CCNL2|0.044327918|64.39%
View 62408779_s7 mvar 62408779_S7.FREEBAYES Y rs78280054
dbSNP Clinvar 		13489569 197.77 G T,C PASS 2/1 44 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.FREEBAYES 2 . 44101649 1099.73 GC... GC... PASS 2/1 32 None None None None None None None None None ABCG8|0.174377842|39.74%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 3 . 105238890 372.73 CT... CT... PASS 2/1 12 None None None None None None None None None ALCAM|0.549351292|13.76%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 3 . 111873902 32.71 TA... TA... PASS 2/1 11 None None None None None None None None None SLC9C1|0.012962251|78.53%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 4 . 843622 3433.73 AC... AC... PASS 2/1 95 None None None None None None None None None GAK|0.037732816|66.55%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 4 . 1809127 643.73 CG... CG... PASS 2/1 17 None None None None None None None None None FGFR3|0.776648495|6.4%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 5 . 137847080 120.73 CA... CA... PASS 2/1 8 None None None None None None None None None ETF1|0.922396234|2.93%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 6 rs13395
dbSNP Clinvar 		29913344 3290.77 G T,C PASS 2/1 120 None None None 0.15196 0.15200 None None None None None None HLA-A|0.043055872|64.8%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 6 . 167907677 1873.73 TA... TA... PASS 2/1 45 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.FREEBAYES 7 . 93070870 1216.73 GA... GA... PASS 2/1 45 None None None None None None None None None CALCR|0.129366689|45.96%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 7 . 151049002 1299.73 AA... AA... PASS 2/1 41 None None None None None None None None None NUB1|0.07916652|55.36%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 11 . 118210424 1192.73 TA... TA... PASS 2/1 55 None None None None None None None None None CD3D|0.005768589|84.89%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 12 . 12247921 809.73 AT... AT... PASS 2/1 59 None None None None None None None None None BCL2L14|0.005004666|85.81%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 12 . 19592600 1315.73 GG... GG... PASS 2/1 48 None None None None None None None None None AEBP2|0.45522852|17.91%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 12 . 64671412 426.74 CT... CT... PASS 2/1 15 None None None None None None None None None C12orf56|0.034622904|67.57%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 12 . 70949973 477.73 AT... AT... PASS 2/1 44 None None None None None None None None None PTPRB|0.177727795|39.33%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 14 . 39554886 144.73 TT... TT... PASS 2/1 17 None None None None None None None None None SEC23A|0.585480926|12.32%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 16 . 10625605 3845.73 GA... GA... PASS 2/1 96 None None None None None None None None None EMP2|0.028816981|69.99%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 17 . 13399486 492.73 AT... AT... PASS 2/1 29 None None None None None None None None None HS3ST3A1|0.149000914|43.13%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 1 . 237037998 92.87 CT... CT... PASS 2/1 22 None None None None None None None None None MTR|0.701848512|8.44%
View 62408779_s7 mvar 62408779_S7.FREEBAYES 20 . 23401904 1445.73 AC... AC... PASS 2/1 52 None None None None None None None None None NAPB|0.308193299|26.98%
  • Page 1 of 1