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INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

IL10RA, IL1RN, NOD2, PLCG2,
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)

Genes at Clinical Genomics Database

IL10RA, IL10RB, IL1RN, NOD2, PLCG2,
IL10RA Inflammatory bowel disease 28, autosomal recessive
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
NOD2 Blau syndrome
Sarcoidosis, early-onset
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 5

Export to: CSV
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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 tsvc_variants_ionxpress_006 11 rs2229113
dbSNP Clinvar
117869670 622.13 A G PASS 0/1 347 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81110 0.81110 0.27155 0.56 0.00 None None None None None None IL10RA|0.008850497|81.79%
View tsvc_variants_ionxpress_006 11 rs3135932
dbSNP Clinvar
117864063 95.0969 A G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08167 0.08167 0.11946 0.12 0.05 None None None None None None IL10RA|0.008850497|81.79%

IL10RB

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 tsvc_variants_ionxpress_006 21 rs2834167
dbSNP Clinvar
34640788 3993.52 A G PASS 1/1 746 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33946 0.33950 0.21452 0.05 0.39 None None None None None None IL10RB|0.007758593|82.81%

IL1RN

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 tsvc_variants_ionxpress_006 2 . 113888688 10.6049 G A PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None IL1RN|0.11539686|48.22%

NOD2

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 tsvc_variants_ionxpress_006 16 rs2066842
dbSNP Clinvar
50744624 332.64 C T PASS 0/1 217 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10204 0.10200 0.19768 0.56 0.00 None None None None None None NOD2|0.13707172|44.87%

PLCG2

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 tsvc_variants_ionxpress_006 16 rs1143687
dbSNP Clinvar
81922813 850.229 C T PASS 0/1 1322 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02396 0.02396 0.05064 0.04 0.75 None None None None None None PLCG2|0.32771221|25.64%
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