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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 9

+ Genes associated with diseases 4

Genes at Omim

CDSN, COL18A1, IYD, PLIN1,
CDSN Hypotrichosis 2, 146520 (3)
Peeling skin syndrome 1, 270300 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
IYD Thyroid dyshormonogenesis 4, 274800 (3)
PLIN1 Lipodystrophy, familial partial, type 4, 613877 (3)

Genes at Clinical Genomics Database

CDSN, COL18A1, IYD, PLIN1,
CDSN Hypotrichosis 2
Peeling skin syndrome 1
COL18A1 Knobloch syndrome 1
IYD Thyroid dyshormonogenesis 4
PLIN1 Lipodystrophy, familial partial, type 4

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 9

Export to: CSV
  • Page 1 of 1

CDSN
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 sp16_multisample SP16_820 6 rs3130982
dbSNP Clinvar 		31084075 1678.34 G C,T PASS 2/2 205 SYNONYMOUS_CODING LOW None 0.01478 0.63200 0.43964 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%

COL18A1
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 sp16_multisample SP16_820 21 . 46924424 114.94 CC... CC... PASS 2/2 28 FRAME_SHIFT HIGH None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

CPN2
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 sp16_multisample SP16_820 3 . 194061906 1262.72 TG CA,CG PASS 2/2 167 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.28 None None None None None None CPN2|0.013888065|77.95%

DCHS2
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 sp16_multisample SP16_820 4 . 155244424 358.3 TG... TT,T PASS 2/2 61 None None None None None None None None None DCHS2|0.027332994|70.73%

EEF1D
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 sp16_multisample SP16_820 8 rs4874160
dbSNP Clinvar 		144671244 130.3 C G,A PASS 2/2 19 SYNONYMOUS_CODING LOW None 0.09545 0.64260 0.20869 None None None None None None EEF1D|0.083769043|54.48%

HELZ2
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 sp16_multisample SP16_820 20 . 62200575 896.58 TG CA,CG PASS 2/2 94 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.64 None None None None None None HELZ2|0.004353219|86.54%

IYD
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 sp16_multisample SP16_820 6 . 150716696 589.53 TG CA,CG PASS 2/2 58 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.03 None None None None None None IYD|0.034611933|67.58%

PLIN1
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 sp16_multisample SP16_820 15 rs6496589
dbSNP Clinvar 		90213229 365.81 G C,GC PASS 2/2 27 FRAME_SHIFT HIGH None 0.89577 0.89580 0.01062 None None None None None None PLIN1|0.243119433|32.17%

UNC93A
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 sp16_multisample SP16_820 6 . 167728774 887.58 TG CA,CG PASS 2/2 116 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None UNC93A|0.004864873|85.98%
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 sp16_multisample SP16_820 8 rs4841419
dbSNP Clinvar 		10532355 130.13 T A,C PASS 2/2 12 None None None 0.92772 0.92770 0.05637 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%
View sp16_multisample SP16_820 12 . 4488383 232.21 ACAA A,AA PASS 2/2 46 None None None None None None None None None FGF23|0.047121478|63.54%
View sp16_multisample SP16_820 16 rs7198383
dbSNP Clinvar 		8619750 251.67 C G,T PASS 2/2 46 None None None 0.70727 0.70730 None None None None None None TMEM114|0.060764124|59.65%
View sp16_multisample SP16_820 20 rs140984798
dbSNP Clinvar 		60904421 324.38 GC... GC... PASS 2/2 101 None None None None None None None None None LAMA5|0.046968919|63.61%
View sp16_multisample SP16_820 1 . 205074018 1390.93 TG CA,CG PASS 2/2 195 None None None None None None None None None RBBP5|0.635266096|10.61%
View sp16_multisample SP16_820 5 rs376809293,rs11279828
dbSNP Clinvar 		167858462 234.01 TC... T,... PASS 2/2 42 None None None 0.95228 0.95230 None None None None None None WWC1|0.190460752|37.77%
View sp16_multisample SP16_820 1 rs8658
dbSNP Clinvar 		156706559 1570.98 A C,G PASS 2/2 165 None None None 0.32089 0.32090 0.28395 None None None None None None RRNAD1|0.119124739|47.57%
View sp16_multisample SP16_820 14 . 94567032 513.6 CC TT,TC PASS 2/2 64 None None None None None None None None None IFI27L1|0.001664332|92.02%
View sp16_multisample SP16_820 19 rs5828194,rs398079901,rs397753117
dbSNP Clinvar 		44847480 476.2 GA AA,G PASS 2/2 67 None None None 0.08387 0.39900 0.39200 None None None None None None ZNF112|0.007620458|82.95%
View sp16_multisample SP16_820 11 . 74022429 82.85 CG CC... PASS 2/2 8 None None None None None None None None None P4HA3|0.142053644|44.14%
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