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+ Genes 7

+ Genes associated with diseases 5

Genes at Omim

HPS5, IL10RA, MMP1, MMP3, SERPINH1,
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
MMP1 {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
COPD, rate of decline of lung function in, 606963 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)

Genes at Clinical Genomics Database

HPS5, IL10RA, SERPINH1,
HPS5 Hermansky-Pudlak syndrome 5
IL10RA Inflammatory bowel disease 28, autosomal recessive
SERPINH1 Osteogenesis imperfecta, type X

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 7

Export to: CSV
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BRSK2
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 eb408_unique 11 rs200368980
dbSNP Clinvar 		1471027 871.26 C G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.00048 None None None None None None None

HPS5
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 eb408_unique 11 rs149677540
dbSNP Clinvar 		18317571 2397.27 C A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00069 0.09 0.05 None None None None None None HPS5|0.115331572|48.24%

IL10RA
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 eb408_unique 11 rs138929400
dbSNP Clinvar 		117866313 1260.76 T G PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00192 0.00 0.56 None None None None None None IL10RA|0.008850497|81.79%

MMP1
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 eb408_unique 11 rs10488
dbSNP Clinvar 		102668022 42748.61 C T PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.07228 0.07228 0.08313 None None None None None None MMP1|0.220212117|34.4%

MMP3
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 eb408_unique 11 rs144383864
dbSNP Clinvar 		102714266 1536.76 A T PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00023 None None None None None None MMP3|0.461471213|17.61%

SERPINH1
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 eb408_unique 11 rs200265134
dbSNP Clinvar 		75277740 1584.76 C A VQSRTrancheSNP99.00to99.90 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00008 0.90 0.00 None None None None None None SERPINH1|0.421887911|19.52%

TRAF6
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 eb408_unique 11 . 36522810 1126.77 C T VQSRTrancheSNP99.00to99.90 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None TRAF6|0.200523121|36.71%
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 eb408_unique 11 . 113565376 662.76 T C PASS 0/1 109 None None None None None None None None None TMPRSS5|0.0207308|73.82%
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