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 GROUPS:

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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 14

+ Genes associated with diseases 6

Genes at Omim

ABCA7, DSP, ITPR1, PXDN, RNF212, SLC7A7,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
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)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)

Genes at Clinical Genomics Database

DSP, ITPR1, PXDN, SLC7A7,
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
PXDN Corneal opacification with other ocular anomalies
SLC7A7 Lysinuric protein intolerance

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 14

Export to: CSV
  • Page 1 of 1

ABCA7
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 hgcat_input_example-3 19 rs881768
dbSNP Clinvar 		1056065 1396.44 A G PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44209 0.44210 0.45937 None None None None None None ABCA7|0.007770288|82.8%

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 hgcat_input_example-3 6 rs1016835
dbSNP Clinvar 		7576527 2839.4 G A PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

GAB4
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 hgcat_input_example-3 22 rs4819925
dbSNP Clinvar 		17446991 4064.16 C T PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

HBQ1
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 hgcat_input_example-3 16 rs11863726
dbSNP Clinvar 		230578 962.31 A G PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20387 0.20390 0.14561 None None None None None None HBQ1|0.003717724|87.4%

ITPR1
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 hgcat_input_example-3 3 rs2306875
dbSNP Clinvar 		4712413 2927.97 G A PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.31915 None None None None None None ITPR1|0.673215803|9.28%

MYOM1
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 hgcat_input_example-3 18 rs2230167
dbSNP Clinvar 		3168816 4111.42 G A PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28215 0.28210 0.27916 None None None None None None MYOM1|0.167204206|40.63%

PTPRA
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 hgcat_input_example-3 20 rs1178016
dbSNP Clinvar 		2996497 4880.66 C T PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61342 0.61340 0.49831 None None None None None None PTPRA|0.392178841|21.26%

PXDN
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 hgcat_input_example-3 2 rs17841813
dbSNP Clinvar 		1664654 2356.23 A G PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%

RNF212
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 hgcat_input_example-3 4 rs4045481
dbSNP Clinvar 		1090625 7052.99 G A PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54673 0.54670 0.42957 None None None None None None RNF212|0.003109274|88.48%

SIRPA
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 hgcat_input_example-3 20 rs6136375
dbSNP Clinvar 		1896100 4450.77 C T PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.34825 None None None None None None SIRPA|0.085510407|54.05%

SLC12A7
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 hgcat_input_example-3 5 rs737154
dbSNP Clinvar 		1065399 940.12 C T PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.55451 0.55450 0.49254 None None None None None None SLC12A7|0.028273575|70.3%

SLC7A7
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 hgcat_input_example-3 14 rs8018462
dbSNP Clinvar 		23282110 423.32 A G PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.58207 0.58210 0.49261 None None None None None None SLC7A7|0.311807291|26.7%

SNRNP48
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 hgcat_input_example-3 6 rs9502622
dbSNP Clinvar 		7602857 2596.49 C T PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12600 0.12600 0.16367 None None None None None None SNRNP48|0.102406004|50.71%

SUPT16H
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 hgcat_input_example-3 14 rs3762158
dbSNP Clinvar 		21829129 13753.5 C G PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87420 0.87420 0.10311 None None None None None None SUPT16H|0.372618342|22.56%
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