SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
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GENE LIST:
INDIVIDUALS:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


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

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

IL7R,
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)

Genes at Clinical Genomics Database

IL7R,
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive

Genes at HGMD

Summary

Number of Variants: 22
Number of Genes: 1

Export to: CSV

IL7R

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 23 recalibrated filtered postcgp gqfiltered 5 . 35860966 197144.11 T C PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 -0.95 None None rs1494558 5 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-positive,_NK_cell-positive 0 None
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 23 recalibrated filtered postcgp gqfiltered 20 . 23637790 844.03 C T PASS 0/1 40 None None None 0.02 None None rs1064039 5 Age-related_macular_degeneration_11 0 None
View 23 recalibrated filtered postcgp gqfiltered 18 . 57580104 2885.4 C A PASS 0/1 51 None None None 0.43 None None rs3848519 5 Erythropoietic_protoporphyria 0 None
View 23 recalibrated filtered postcgp gqfiltered 17 . 13011692 55105.61 G A PASS 0/1 138 None None None 0.99 None None rs4792311 5 Prostate_cancer,_hereditary,_2 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 27344882 37412.63 A G PASS 0/1 75 None None None -1.78 None None rs1805010 5 Acquired_immunodeficiency_syndrome,_slow_progression_to 0 None
View 23 recalibrated filtered postcgp gqfiltered 14 . 94380925 372.63 T A PASS 0/1 39 None None None 5.00 None None rs17580 5 Alpha-1-antitrypsin_deficiency 0 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 113400106 12007.45 G A PASS 1/1 87 None None None -0.26 None None rs1800497 5 Dopamine_receptor_d2,_reduced_brain_density_of 0 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 48123823 21583.94 A C PASS 0/1 48 None None None -0.71 None None rs1566734 5 Carcinoma_of_colon 0 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 18269312 23387.71 C T PASS 1/1 48 None None None -0.43 None None rs1136743 5 Serum_amyloid_a_variant 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 133436862 3125.44 C G PASS 0/1 31 None None None -0.43 None None rs2301612 5 Upshaw-Schulman_syndrome 0 None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150999023 205867.08 T G PASS 1/1 51 None None None -0.42 None None rs1799983 5 Hypertension_resistant_to_conventional_therapy 0 None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138733046 15492.35 A G PASS 0/1 62 None None None 4.36 None None rs3807153 5 Renal_tubular_acidosis,_distal,_autosomal_recessive 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 177093242 16901.64 G A PASS 0/1 62 None None None 4.80 None None rs351855 5 Cancer_progression_and_tumor_cell_motility 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 35871088 81523.66 G A PASS 0/1 55 None None None -0.63 None None rs1494555 5 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-positive,_NK_cell-positive 0 None
View 23 recalibrated filtered postcgp gqfiltered 4 . 186236880 91308.57 G A PASS 0/1 113 None None None -0.72 None None rs3733402 5 Prekallikrein_deficiency 0 None
View 23 recalibrated filtered postcgp gqfiltered 3 . 39265765 41374.67 C T PASS 0/1 75 None None None -1.80 None None rs3732379 5 Human_immunodeficiency_virus_type_1,_rapid_progression_to_AIDS 0 None
View 23 recalibrated filtered postcgp gqfiltered 3 . 39265671 22601.94 G A PASS 0/1 90 None None None 2.19 None None rs3732378 5 Human_immunodeficiency_virus_type_1,_rapid_progression_to_AIDS 0 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 231272345 76276.96 A G PASS 0/1 63 None None None 2.25 None None rs11558492 5 Rhizomelic_chondrodysplasia_punctata_type_2 0 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 161629903 25420.41 T C VQSRTrancheSNP99.90to100.00 1/1 83 None None None -2.83 None None rs448740 5 Neutrophil-specific_antigens_na1/na2 0 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 158654738 3497.55 G T PASS 0/1 29 None None None 4.56 None None rs35948326 5 Spherocytosis,_type_3,_autosomal_recessive 0 None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44651586 985.78 C T PASS 0/1 35 None None None 2.27 None None rs73598374 5 Adenosine_deaminase_2_allozyme 0 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 97883329 12179.28 A G PASS 0/1 42 None None None None None rs1801265 5 Dihydropyrimidine_dehydrogenase_deficiency 0 None