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+ Genes 6

Genes:
DSP, EYA4, HFE, LAMA2, LAMA4, TRDN,

+ Genes associated with diseases 6

Genes at Omim

DSP, EYA4, HFE, LAMA2, LAMA4, TRDN,
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
EYA4 Deafness, autosomal dominant 10, 601316 (3)
?Cardiomyopathy, dilated, 1J, 605362 (3)
HFE {Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
Hemochromatosis, 235200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA4 Cardiomyopathy, dilated, 1JJ, 615235 (3)
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)

Genes at Clinical Genomics Database

DSP, EYA4, HFE, LAMA2, LAMA4, TRDN,
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
EYA4 Cardiomyopathy, dilated, 1J
HFE Hemochromatosis
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMA4 Cardiomyopathy, dilated, 1JJ
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

Genes at HGMD

Summary

Number of Variants: 24
Number of Genes: 6

Export to: CSV
  • Page 1 of 1

DSP
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 na12877-rep1_s1 6 rs2744380
dbSNP Clinvar 		7585967 2631.03 G C PASS 0/1 263 SYNONYMOUS_CODING LOW None 0.70947 0.70950 0.31193 None None None None None None DSP|0.573194355|12.87%
View na12877-rep1_s1 6 rs2806234
dbSNP Clinvar 		7563983 9460.21 T G PASS 1/1 381 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00146 None None None None None None DSP|0.573194355|12.87%
View na12877-rep1_s1 6 rs2076304
dbSNP Clinvar 		7572262 2264.01 A G PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.77436 0.77440 0.21413 None None None None None None DSP|0.573194355|12.87%
View na12877-rep1_s1 6 rs1016835
dbSNP Clinvar 		7576527 2797.95 G A PASS 0/1 248 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%
View na12877-rep1_s1 6 rs2064217
dbSNP Clinvar 		7577260 4130.67 C T PASS 0/1 414 SYNONYMOUS_CODING LOW None 0.27516 0.27520 0.26884 None None None None None None DSP|0.573194355|12.87%
View na12877-rep1_s1 6 rs6929069
dbSNP Clinvar 		7581636 4595.37 G A PASS 0/1 375 NON_SYNONYMOUS_CODING MODERATE None 0.24042 0.24040 0.19414 0.08 0.00 None None None None None None DSP|0.573194355|12.87%

EYA4
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 na12877-rep1_s1 6 rs9493627
dbSNP Clinvar 		133789728 863.45 G A PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.40955 0.40950 0.38298 0.17 0.87 None None None None None None EYA4|0.884461407|3.86%

HFE
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 na12877-rep1_s1 6 rs1799945
dbSNP Clinvar 		26091179 3842.8 C G PASS 0/1 366 NON_SYNONYMOUS_CODING MODERATE None 0.07308 0.07308 0.11072 0.74 0.23 None None None None None None HFE|0.019555735|74.41%

LAMA2
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 na12877-rep1_s1 6 rs4404787
dbSNP Clinvar 		129381026 4647.97 C A PASS 1/1 178 SYNONYMOUS_CODING LOW None 0.93670 0.93670 0.05267 None None None None None None LAMA2|0.84870738|4.68%
View na12877-rep1_s1 6 rs3816665
dbSNP Clinvar 		129571330 1693.3 G A PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.27097 0.27100 0.26972 0.28 0.00 None None None None None None LAMA2|0.84870738|4.68%
View na12877-rep1_s1 6 rs3749877
dbSNP Clinvar 		129722389 2083.58 A G PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.54453 0.54450 0.48393 None None None None None None LAMA2|0.84870738|4.68%
View na12877-rep1_s1 6 rs3749878
dbSNP Clinvar 		129722425 2537.81 G A PASS 0/1 201 SYNONYMOUS_CODING LOW None 0.54333 0.54330 0.48501 None None None None None None LAMA2|0.84870738|4.68%
View na12877-rep1_s1 6 rs56173620
dbSNP Clinvar 		129722453 2298.86 C A PASS 0/1 235 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00499 0.01269 0.77 0.06 None None None None None None LAMA2|0.84870738|4.68%
View na12877-rep1_s1 6 rs2229848
dbSNP Clinvar 		129807629 4655.11 C T PASS 1/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.58387 0.58390 0.36137 0.01 0.94 None None None None None None LAMA2|0.84870738|4.68%
View na12877-rep1_s1 6 rs2229849
dbSNP Clinvar 		129807699 3076.97 G C PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.58427 0.58430 0.35999 None None None None None None LAMA2|0.84870738|4.68%

LAMA4
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 na12877-rep1_s1 6 rs1050348
dbSNP Clinvar 		112493872 2932.25 A G PASS 0/1 334 NON_SYNONYMOUS_CODING MODERATE None 0.75839 0.75840 0.35122 0.55 0.00 None None None None None None LAMA4|0.213176516|35.21%
View na12877-rep1_s1 6 rs2032567
dbSNP Clinvar 		112457390 2963.92 C T PASS 0/1 265 NON_SYNONYMOUS_CODING MODERATE None 0.83986 0.83990 0.24865 0.79 0.00 None None None None None None LAMA4|0.213176516|35.21%
View na12877-rep1_s1 6 rs9400522
dbSNP Clinvar 		112508770 3370.28 G T PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.03 0.00 None None None None None None LAMA4|0.213176516|35.21%
View na12877-rep1_s1 6 rs9387061
dbSNP Clinvar 		112508769 3345.5 T G PASS 1/1 121 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None LAMA4|0.213176516|35.21%

TRDN
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 na12877-rep1_s1 6 rs6901953
dbSNP Clinvar 		123699042 2032.34 T C PASS 0/1 155 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.27217 0.27220 0.35442 None None None None None None TRDN|0.11061284|49.08%
View na12877-rep1_s1 6 rs28494009
dbSNP Clinvar 		123699019 2229.62 A C PASS 0/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.16913 0.16910 0.15871 0.00 0.02 None None None None None None TRDN|0.11061284|49.08%
View na12877-rep1_s1 6 rs2873479
dbSNP Clinvar 		123687288 4188.62 A C PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.01597 0.93930 0.07449 0.22 0.00 None None None None None None TRDN|0.11061284|49.08%
View na12877-rep1_s1 6 rs9490809
dbSNP Clinvar 		123869607 477.12 G C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.39297 0.39300 0.45877 0.74 0.04 None None None None None None TRDN|0.11061284|49.08%
View na12877-rep1_s1 6 rs6902416
dbSNP Clinvar 		123833457 4393.96 G C PASS 1/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.84325 0.84330 0.15755 1.00 0.00 None None None None None None TRDN|0.11061284|49.08%
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