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+ Genes 9

+ Genes associated with diseases 4

Genes at Omim

DSG1, LOXHD1, MOCOS, SETBP1,
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
MOCOS Xanthinuria, type II, 603592 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)

Genes at Clinical Genomics Database

DSG1, LOXHD1, SETBP1,
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
LOXHD1 Deafness, autosomal recessive 77
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome

Genes at HGMD

Summary

Number of Variants: 27
Number of Genes: 9

Export to: CSV
  • Page 1 of 1

CDH2
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 allllllllllllyblswd 18 . 25591836 1200.0 C T . 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 6.93 0.11 0.78508 D None None None None CDH2|0.998144482|0.55%

CNDP1
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 allllllllllllyblswd 18 rs548057968
dbSNP Clinvar 		72245442 1374.0 T C . 0/1 98 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None CNDP1|0.024865105|71.86%

DSG1
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 allllllllllllyblswd 18 . 28934495 3517.0 G C . 0/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.00 -0.68 0.02 0.43702 T None None None None DSG1|0.124796378|46.66%

LOXHD1
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 allllllllllllyblswd 18 rs764570609
dbSNP Clinvar 		44140501 1020.0 G A . 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 1.62 0.15 0.82956 D None None None None LOXHD1|0.227324787|33.62%

MOCOS
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 allllllllllllyblswd 18 rs35264715
dbSNP Clinvar 		33793419 309.0 A G . 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00338 0.53 0.00 0.84 None None None None None None MOCOS|0.024312785|72.09%

RBFA
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 allllllllllllyblswd 18 rs146546640
dbSNP Clinvar 		77805896 1748.0 G T . 0|1 121 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00308 0.01 0.56 3.81 0.01 0.27051 T None None None None RBFA|0.002028782|90.91%

SERPINB4
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 allllllllllllyblswd 18 rs138003982
dbSNP Clinvar 		61306445 1147.0 G A . 1|0 102 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00 1.00 5.90 0.23 0.88346 D None None None None SERPINB4|0.001061411|95.11%

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 allllllllllllyblswd 18 . 42643474 92.0 G C . 0|1 43 SYNONYMOUS_CODING LOW None None None None None None None SETBP1|0.84909665|4.67%

TYMS
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 allllllllllllyblswd 18 rs142487107
dbSNP Clinvar 		670804 1979.0 G A . 0/1 133 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00092 None None None None None None None
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 allllllllllllyblswd 18 . 18588242 39.0 C A . 0/1 14 None None None None None None None None None ROCK1|0.885551148|3.82%
View allllllllllllyblswd 18 . 34833973 93.0 C G . 0|1 32 None None None None None None None None None CELF4|0.8655122|4.37%
View allllllllllllyblswd 18 rs138296321
dbSNP Clinvar 		28670899 407.0 A G . 0/1 25 None None None 0.00280 0.00280 None None None None None None DSC2|0.027947877|70.44%
View allllllllllllyblswd 18 . 43484143 830.0 T C . 0/1 58 None None None None None None None None None EPG5|0.11400521|48.49%
View allllllllllllyblswd 18 rs560233976
dbSNP Clinvar 		44100954 279.0 C G . 0/1 18 None None None 0.00120 0.00120 None None None None None None LOXHD1|0.227324787|33.62%
View allllllllllllyblswd 18 rs201857867
dbSNP Clinvar 		47093796 306.0 C G . 0/1 33 None None None 0.00200 0.00200 0.00277 None None None None None None LIPG|0.212182734|35.32%
View allllllllllllyblswd 18 . 47787619 456.0 AGC A . 0/1 40 None None None None None None None None None CFAP53|0.02234551|72.99%
View allllllllllllyblswd 18 . 67809632 77.0 C A . 0/1 15 None None None None None None None None None RTTN|0.045017499|64.2%
View allllllllllllyblswd 18 . 67860432 193.0 AG A . 0/1 28 None None None None None None None None None RTTN|0.045017499|64.2%
View allllllllllllyblswd 18 rs564632328
dbSNP Clinvar 		21123633 238.0 T G . 0/1 16 None None None 0.00240 0.00240 None None None None None None NPC1|0.141724211|44.18%
View allllllllllllyblswd 18 rs1047118658
dbSNP Clinvar 		34833981 194.0 A G . 0|1 26 None None None None None None None None None CELF4|0.8655122|4.37%
View allllllllllllyblswd 18 rs888424968
dbSNP Clinvar 		34833988 111.0 C G . 0|1 27 None None None None None None None None None CELF4|0.8655122|4.37%
View allllllllllllyblswd 18 . 34839236 95.0 A G . 0|1 13 None None None None None None None None None CELF4|0.8655122|4.37%
View allllllllllllyblswd 18 . 34839331 65.0 T G . 0|1 7 None None None None None None None None None CELF4|0.8655122|4.37%
View allllllllllllyblswd 18 . 34833962 103.0 C G . 0/1 30 None None None None None None None None None CELF4|0.8655122|4.37%
View allllllllllllyblswd 18 rs202191131
dbSNP Clinvar 		3100267 542.0 T C . 0/1 36 None None None 0.00020 0.00020 None None None None None None MYOM1|0.167204206|40.63%
View allllllllllllyblswd 18 . 13643439 76.0 C G . 0|1 25 None None None None None None None None None LDLRAD4|0.127031081|46.33%
View allllllllllllyblswd 18 rs967127124
dbSNP Clinvar 		13643446 837.0 C G . 0|1 48 None None None None None None None None None LDLRAD4|0.127031081|46.33%
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