SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

RNPC3,
RNPC3 ?Growth hormone deficiency, isolated, type V, 618160 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 6

Export to: CSV
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CELA1

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 chh6738_annovar 12 rs753836828
dbSNP Clinvar
51740407 2840.92 CATAA C PASS 0/1 73 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CELA1|0.06097239|59.6%

CYP4B1

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 chh6738_annovar 1 rs3215983
dbSNP Clinvar
47280746 3698.9 GAT G PASS 0|1 53 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

PRB3

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 chh6738_annovar 12 rs3842295
dbSNP Clinvar
11420333 3707.89 AG A PASS 1|0 82 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.82408 0.82410 0.10774 None None None None None None PRB3|0.000537603|98.24%

RNPC3

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 chh6738_annovar 1 rs772963253
dbSNP Clinvar
104076466 56.13 GA G PASS 0|0 43 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.29419 None None None None None None RNPC3|0.31175828|26.73%

TRAJ17

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 chh6738_annovar 14 rs3841038
dbSNP Clinvar
22995872 1037.13 CAAGT C PASS 0|0 60 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.03614 0.03614 0.01157 None None None None None None None

UPP2

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 chh6738_annovar 2 rs11368509
dbSNP Clinvar
158958551 3656.9 G GA PASS 0|1 46 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.14896 0.14900 0.10535 None None None None None None UPP2|0.071757653|57.05%
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