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+ Genes 5

Genes:
KATNAL2, NEDD4L, NPC1, SETBP1, TCF4,

+ Genes associated with diseases 5

Genes at Omim

NEDD4L, NPC1, NPC1, SETBP1, TCF4,
NEDD4L Periventricular nodular heterotopia 7, 617201 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)

Genes at Clinical Genomics Database

NPC1, SETBP1, TCF4,
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome

Genes at HGMD

Summary

Number of Variants: 58
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

KATNAL2
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 dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs7233515
dbSNP Clinvar 		44585955 1096.77 G A . 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.43530 0.43530 0.38190 0.40 0.00 -1.03 None None None None None None KATNAL2|0.157340058|41.98%

NEDD4L
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 dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs4149601
dbSNP Clinvar 		55816791 1045.77 G A . 0/1 68 None None None 0.27616 0.27620 0.34034 None None None None None None NEDD4L|0.694589735|8.66%

NPC1
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 dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1805081
dbSNP Clinvar 		21140432 1463.77 T C . 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.21865 0.21870 0.29594 0.58 0.00 -0.13 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1788799
dbSNP Clinvar 		21124945 1835.77 C G . 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.83167 0.83170 0.26534 1.00 0.00 1.40 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1805082
dbSNP Clinvar 		21120444 2175.77 T C . 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.48582 0.48580 0.44272 0.26 0.02 2.72 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1140458
dbSNP Clinvar 		21119777 1488.77 G A . 1/1 48 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48403 0.48400 0.44203 None None None None None None None

SETBP1
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 dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs8096662
dbSNP Clinvar 		42533130 1575.77 A G . 1/1 53 SYNONYMOUS_CODING LOW None 0.90695 0.90690 0.10042 None None None None None None SETBP1|0.84909665|4.67%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs3085861
dbSNP Clinvar 		42456670 4254.73 C CTCTT . 1/1 59 None None None 0.49381 0.49380 0.46560 None None None None None None SETBP1|0.84909665|4.67%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs663651
dbSNP Clinvar 		42456653 1827.77 G A . 1/1 56 None None None 0.49301 0.49300 0.69 0.00 0.01 None None None None None None SETBP1|0.84909665|4.67%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs11082414
dbSNP Clinvar 		42529996 2403.77 G C . 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.15675 0.15670 0.18530 0.09 0.01 -1.24 None None None None None None SETBP1|0.84909665|4.67%

TCF4
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 dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs8766
dbSNP Clinvar 		52895531 820.77 T C . 0/1 81 SYNONYMOUS_CODING LOW None 0.34245 0.34250 0.36468 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs17522826
dbSNP Clinvar 		53070914 1279.77 G A . 0/1 89 None None None 0.19229 0.19230 0.03 1.67 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs611326
dbSNP Clinvar 		53303101 1911.77 C G . 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00123 0.52 0.00 None None None None None None TCF4|0.999272266|0.38%
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 dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs79184296
dbSNP Clinvar 		33722121 359.77 T C . 0/1 20 None None None 0.04413 0.04413 None None None None None None ELP2|0.183972604|38.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs80146684
dbSNP Clinvar 		33722122 392.77 A G . 0/1 21 None None None 0.04972 0.04972 None None None None None None ELP2|0.183972604|38.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs3737471
dbSNP Clinvar 		33722716 283.77 T C . 0/1 17 None None None 0.07189 0.07188 None None None None None None ELP2|0.183972604|38.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1785922
dbSNP Clinvar 		33736779 53.74 A G . 1/1 2 None None None 0.99261 0.99260 None None None None None None ELP2|0.183972604|38.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs17649067
dbSNP Clinvar 		33744702 413.77 T C . 0/1 21 None None None 0.04413 0.04413 None None None None None None ELP2|0.183972604|38.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs607962
dbSNP Clinvar 		33749871 332.78 C T . 1/1 10 None None None 0.97983 0.97980 None None None None None None ELP2|0.183972604|38.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs2289036
dbSNP Clinvar 		44595809 588.77 A T . 0/1 50 None None None 0.49720 0.49720 0.43019 None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs2187092
dbSNP Clinvar 		44526798 719.77 A C . 0/1 50 None None None 0.47244 0.47240 None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs2576041
dbSNP Clinvar 		44580919 422.77 C T . 0/1 24 None None None 0.47824 0.47820 None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs3816125
dbSNP Clinvar 		44601611 745.77 A G . 0/1 50 None None None 0.29213 0.29210 0.39734 None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs9961383
dbSNP Clinvar 		44604001 85.28 C T . 1/1 3 None None None 0.45787 0.45790 None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs6567210
dbSNP Clinvar 		52895418 1080.77 G A . 0/1 71 None None None 0.07648 0.07648 0.08350 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs8087569
dbSNP Clinvar 		52896000 262.77 A G . 0/1 17 None None None 0.09085 0.09085 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs8087570
dbSNP Clinvar 		52896003 254.77 A G . 0/1 18 None None None 0.09085 0.09085 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs41483647
dbSNP Clinvar 		52901607 172.77 A G . 0/1 11 None None None 0.09105 0.09105 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs62092442
dbSNP Clinvar 		52922000 596.77 T C . 0/1 38 None None None 0.30691 0.30690 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs11662842
dbSNP Clinvar 		52924317 297.78 C G . 1/1 8 None None None 0.30371 0.30370 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs74849864
dbSNP Clinvar 		52924695 882.77 C T . 0/1 58 None None None 0.01617 0.01617 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs35969244
dbSNP Clinvar 		52927400 500.77 T C . 0/1 29 None None None 0.08546 0.08546 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1788027
dbSNP Clinvar 		52942827 1322.77 G A . 0/1 80 None None None 0.57029 0.57030 0.46655 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs73479266
dbSNP Clinvar 		53128468 92.77 G T . 0/1 9 None None None 0.05092 0.05092 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs3760600
dbSNP Clinvar 		53131488 653.77 C A . 1/1 17 None None None 0.54513 0.54510 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs599550
dbSNP Clinvar 		53252388 1774.77 G A . 1/1 49 None None None 0.93151 0.93150 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs597159
dbSNP Clinvar 		53298871 115.03 G A . 1/1 4 None None None 0.99681 0.99680 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs610362
dbSNP Clinvar 		53302845 1836.77 C T . 1/1 55 None None None 0.99681 0.99680 None None None None None None TCF4|0.999272266|0.38%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs200562877
dbSNP Clinvar 		55711968 591.77 A C . 0/1 39 None None None 0.00160 0.00160 0.00154 None None None None None None NEDD4L|0.694589735|8.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs564442
dbSNP Clinvar 		55832896 22.79 C T . 0/1 10 None None None 0.46326 0.46330 None None None None None None NEDD4L|0.694589735|8.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs2304020
dbSNP Clinvar 		55915969 179.77 C G . 0/1 11 None None None 0.11661 0.11660 None None None None None None NEDD4L|0.694589735|8.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs4149609
dbSNP Clinvar 		56008148 609.77 A G . 1/1 16 None None None 0.53315 0.53310 None None None None None None NEDD4L|0.694589735|8.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs745959415,rs879054719
dbSNP Clinvar 		56024396 122.73 AT A . 0/1 44 None None None None None None None None None NEDD4L|0.694589735|8.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1943994
dbSNP Clinvar 		56040649 507.77 T C . 1/1 13 None None None 0.97624 0.97620 None None None None None None NEDD4L|0.694589735|8.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs11299077,rs560653962,rs533551695,rs796757567
dbSNP Clinvar 		21123536 84.73 TA T . 0/1 35 None None None 0.50220 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs5825274,rs555924484,rs398079507,rs397759502
dbSNP Clinvar 		56054616 1321.73 AT A . 1/1 54 None None None 0.60620 None None None None None None NEDD4L|0.694589735|8.66%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs201530608
dbSNP Clinvar 		44593253 14.68 T A LowQual 1/1 1 None None None None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs112766014
dbSNP Clinvar 		44593255 14.68 T C LowQual 1/1 1 None None None None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs112249512
dbSNP Clinvar 		44593257 15.65 T C LowQual 1/1 1 None None None None None None None None None KATNAL2|0.157340058|41.98%
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs137869274
dbSNP Clinvar 		21123311 42.77 G A . 0/1 45 None None None None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs2510344
dbSNP Clinvar 		21113285 2396.77 T C . 1/1 66 None None None 0.52217 0.52220 0.47447 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs6507720
dbSNP Clinvar 		21119291 2038.77 A G . 1/1 61 None None None 0.58766 0.58770 0.45172 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs7239575
dbSNP Clinvar 		21120035 742.77 T C . 1/1 19 None None None 0.58666 0.58670 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs1788821
dbSNP Clinvar 		21120869 495.77 A G . 1/1 13 None None None 0.83187 0.83190 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs552028482
dbSNP Clinvar 		21123304 822.73 A AG . 0/1 49 None None None None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs879051822
dbSNP Clinvar 		21123304 78.77 A G . 0/1 48 None None None None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs2435307
dbSNP Clinvar 		21127910 2124.77 C T . 1/1 59 None None None 0.49101 0.49100 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 18 rs74715150,rs397734289
dbSNP Clinvar 		33718201 724.73 T TC . 0/1 50 None None None 0.46665 0.46670 0.39815 None None None None None None ELP2|0.183972604|38.49%
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