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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
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
PRSS1,

+ Genes associated with diseases 1

Genes at Omim

PRSS1,
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)

Genes at Clinical Genomics Database

PRSS1,
PRSS1 Pancreatitis, hereditary

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

PRSS1
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 4k20002_01 gatk 7 rs541223359
dbSNP Clinvar 		142460801 363.77 A G . 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.34 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs574391339
dbSNP Clinvar 		142460779 787.77 G T . 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 1.00 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs562372415
dbSNP Clinvar 		142460778 816.77 T C . 0/1 163 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs200902389
dbSNP Clinvar 		142460764 1248.77 G A . 0/1 180 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs140793689
dbSNP Clinvar 		142460752 1977.77 C G . 0/1 190 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs150930992
dbSNP Clinvar 		142460744 2210.77 G C . 0/1 196 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.77 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs751264273
dbSNP Clinvar 		142460415 894.77 T C . 0/1 77 SYNONYMOUS_CODING LOW SILENT None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs758274784
dbSNP Clinvar 		142460412 969.77 A C . 0/1 83 SYNONYMOUS_CODING LOW SILENT None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs377124851
dbSNP Clinvar 		142460394 1890.77 T C . 0/1 123 SYNONYMOUS_CODING LOW SILENT 0.00319 0.00320 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs201719096
dbSNP Clinvar 		142460369 2647.77 G A . 0/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs201550522
dbSNP Clinvar 		142460335 2686.77 A G . 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00160 0.00160 1.00 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs374770738
dbSNP Clinvar 		142458938 4897.77 T A . 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs371622191
dbSNP Clinvar 		142458929 4696.77 G C . 1/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.52 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs369646357
dbSNP Clinvar 		142458486 221.77 C T . 0/1 130 SYNONYMOUS_CODING LOW SILENT None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs111033566
dbSNP Clinvar 		142458451 1159.77 A T . 0/1 184 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs747228052
dbSNP Clinvar 		142457375 505.77 C G . 0/1 75 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00 0.00 None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs779260304
dbSNP Clinvar 		142457365 499.77 G T . 0/1 77 SYNONYMOUS_CODING LOW SILENT None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs749968829
dbSNP Clinvar 		142457347 522.77 C T . 0/1 82 SYNONYMOUS_CODING LOW SILENT None None None None None None PRSS1|0.013065246|78.46%
View 4k20002_01 gatk 7 rs374597855
dbSNP Clinvar 		142457343 522.77 C T . 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69 0.00 None None None None None None PRSS1|0.013065246|78.46%
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