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 GROUPS:

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 CHR:

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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
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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 1

Genes:
HRG,

+ Genes associated with diseases 1

Genes at Omim

HRG,
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)

Genes at Clinical Genomics Database

HRG,
HRG Thrombophilia due to histidine-rich glycoprotein deficiency

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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HRG
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 94533-0209701724_ms_onbait 3 rs2228243
dbSNP Clinvar 		186395113 2441065.2 A G PASS 0/1 264 NON_SYNONYMOUS_CODING MODERATE None 0.20487 0.20490 0.15624 0.19 0.13 None None None None None None HRG|0.006126069|84.46%
View 94533-0209701724_ms_onbait 3 rs7629680
dbSNP Clinvar 		186395180 17684910.51 T C PASS 1/1 330 SYNONYMOUS_CODING LOW None 0.99840 0.99840 0.00200 None None None None None None HRG|0.006126069|84.46%
View 94533-0209701724_ms_onbait 3 rs1042464
dbSNP Clinvar 		186395572 4798004.11 A T PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.65056 0.65060 0.44818 1.00 0.00 None None None None None None HRG|0.006126069|84.46%
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