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+ Genes 5

Genes:
CDH1, ERCC4, FANCA, SLX4, TSC2,

+ Genes associated with diseases 5

Genes at Omim

CDH1, ERCC4, FANCA, SLX4, TSC2,
CDH1 Blepharocheilodontic syndrome 1, 119580 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Endometrial carcinoma, somatic, 608089 (3)
Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3)
Ovarian cancer, somatic, 167000 (3)
{Breast cancer, lobular}, 114480 (3)
ERCC4 Fanconi anemia, complementation group Q, 615272 (3)
Xeroderma pigmentosum, group F, 278760 (3)
Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
?XFE progeroid syndrome, 610965 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
Tuberous sclerosis-2, 613254 (3)
?Focal cortical dysplasia, type II, somatic, 607341 (3)

Genes at Clinical Genomics Database

CDH1, ERCC4, FANCA, SLX4, TSC2,
CDH1 CDH1-related cancer
ERCC4 Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
FANCA Fanconi anemia, complementation group A
SLX4 Fanconi anemia type P
TSC2 Lymphangioleiomyomatosis
Tuberous sclerosis 2

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

CDH1
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 5_s5 genome 16 rs1801552
dbSNP Clinvar 		68857441 26535.08 T C PASS 1/1 904 SYNONYMOUS_CODING LOW None 0.71865 0.71870 0.28386 None None None None None None CDH1|0.998372534|0.51%

ERCC4
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 5_s5 genome 16 rs1799801
dbSNP Clinvar 		14041958 23990.71 T C PASS 1/1 861 SYNONYMOUS_CODING LOW None 0.24121 0.24120 0.25319 None None None None None None ERCC4|0.251241672|31.43%
View 5_s5 genome 16 rs1800067
dbSNP Clinvar 		14029033 7107.09 G A PASS 0/1 842 NON_SYNONYMOUS_CODING MODERATE None 0.02855 0.02855 0.05480 0.01 0.98 None None None None None None ERCC4|0.251241672|31.43%
View 5_s5 genome 16 rs758451676
dbSNP Clinvar 		14031671 12051.82 C G PASS 0/1 1302 SYNONYMOUS_CODING LOW None None None None None None None ERCC4|0.251241672|31.43%

FANCA
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 5_s5 genome 16 rs7195066
dbSNP Clinvar 		89836323 15051.32 C T PASS 1/1 466 NON_SYNONYMOUS_CODING MODERATE None 0.66673 0.66670 0.43067 0.31 0.00 None None None None None None FANCA|0.007695026|82.85%
View 5_s5 genome 16 rs2239359
dbSNP Clinvar 		89849480 19533.47 C T PASS 1/1 716 NON_SYNONYMOUS_CODING MODERATE None 0.62400 0.62400 0.48230 1.00 0.00 None None None None None None FANCA|0.007695026|82.85%
View 5_s5 genome 16 rs7190823
dbSNP Clinvar 		89866043 14299.59 T C PASS 1/1 532 NON_SYNONYMOUS_CODING MODERATE None 0.69050 0.69050 0.49400 1.00 0.00 None None None None None None FANCA|0.007695026|82.85%

SLX4
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 5_s5 genome 16 rs28516461
dbSNP Clinvar 		3656557 8953.5 G A PASS 0/1 725 SYNONYMOUS_CODING LOW None 0.13179 0.13180 0.09512 None None None None None None SLX4|0.005065582|85.73%
View 5_s5 genome 16 rs749913190
dbSNP Clinvar 		3644501 3826.64 C T PASS 0/1 505 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.97 None None None None None None SLX4|0.005065582|85.73%
View 5_s5 genome 16 rs76488917
dbSNP Clinvar 		3640477 5147.44 C T PASS 0/1 435 SYNONYMOUS_CODING LOW None 0.06709 0.06709 0.03294 None None None None None None SLX4|0.005065582|85.73%
View 5_s5 genome 16 rs714181
dbSNP Clinvar 		3640274 10707.32 G A PASS 0/1 1103 NON_SYNONYMOUS_CODING MODERATE None 0.23962 0.23960 0.21164 0.31 0.00 None None None None None None SLX4|0.005065582|85.73%
View 5_s5 genome 16 rs3810812
dbSNP Clinvar 		3639139 9098.47 A G PASS 0/1 855 SYNONYMOUS_CODING LOW None 0.73962 0.73960 0.37340 None None None None None None SLX4|0.005065582|85.73%

TSC2
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 5_s5 genome 16 . 2107150 34.62 C A LowVariantFreq;SB 0/1 24 SYNONYMOUS_CODING LOW None 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 5_s5 genome 16 rs9929218
dbSNP Clinvar 		68820946 11458.27 G A PASS 0/1 1401 None None None 0.25759 0.25760 None None None None None None CDH1|0.998372534|0.51%
View 5_s5 genome 16 rs3112612
dbSNP Clinvar 		52635164 2084.26 G A PASS 0/1 373 None None None 0.52416 0.52420 None None None None None None None
View 5_s5 genome 16 rs391525
dbSNP Clinvar 		85944439 7652.1 A G PASS 0/1 885 None None None 0.31649 0.31650 None None None None None None IRF8|0.149976637|43.02%
View 5_s5 genome 16 rs258322
dbSNP Clinvar 		89755903 3101.4 A G PASS 0/1 469 None None None 0.76378 0.76380 None None None None None None CDK10|0.099233006|51.33%
View 5_s5 genome 16 rs3803662
dbSNP Clinvar 		52586341 2095.52 A G PASS 0/1 355 None None None 0.55970 0.55970 None None None None None None None
View 5_s5 genome 16 rs4785763
dbSNP Clinvar 		90066936 15641.03 A C PASS 1/1 659 None None None 0.71965 0.71960 None None None None None None None
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