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

CRB2, GRHPR,
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)

Genes at Clinical Genomics Database

CRB2, GRHPR,
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
GRHPR Hyperoxaluria, primary, type II

Genes at HGMD

Summary

Number of Variants: 36
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

CRB2

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 53586-full_variant_table 9 rs773967435
dbSNP Clinvar
126139181 343.0 GCCT G low_variant_fraction 0/1 699 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs2488601
dbSNP Clinvar
126135715 10000.0 A G PASS 1/1 745 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97624 0.97620 0.02453 0.84 0.00 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs61740213
dbSNP Clinvar
126134542 10000.0 G A PASS 0/1 885 SYNONYMOUS_CODING LOW SILENT 0.32907 0.32910 0.40128 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs2808415
dbSNP Clinvar
126125318 10000.0 C A PASS 1/1 910 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99701 0.99700 0.00277 1.00 0.00 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs73571431
dbSNP Clinvar
126136139 10000.0 C T PASS 0/1 801 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10583 0.10580 0.08835 0.11 0.10 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs2488602
dbSNP Clinvar
126133547 10000.0 T C PASS 1/1 981 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99661 0.99660 0.00277 1.00 0.00 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs1105222
dbSNP Clinvar
126128253 10000.0 G C PASS 0/1 673 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31590 0.31590 0.31078 0.46 0.40 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs1105223
dbSNP Clinvar
126128211 10000.0 T C PASS 0/1 580 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37540 0.37540 0.37361 0.77 0.00 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs10818812
dbSNP Clinvar
126129904 10000.0 C T PASS 0/1 509 SYNONYMOUS_CODING LOW SILENT 0.28395 0.28390 0.28493 None None None None None None CRB2|0.035723803|67.22%

GRHPR

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 53586-full_variant_table 9 rs309458
dbSNP Clinvar
37429814 10000.0 A G PASS 1/1 577 SYNONYMOUS_CODING LOW SILENT 0.84924 0.84920 0.14301 None None None None None None GRHPR|0.097590838|51.6%
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 53586-full_variant_table 9 . 126128062 206.0 A C low_variant_fraction;off_target 0/1 153 None None None None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 . 126128055 109.0 A C low_variant_fraction;off_target 0/1 154 None None None None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs1105224
dbSNP Clinvar
126127998 842.0 A G off_target 0/1 98 None None None 0.37919 0.37920 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs56366974
dbSNP Clinvar
126124975 1561.0 T C off_target 0/1 100 None None None 0.31669 0.31670 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs72433015,rs60364866
dbSNP Clinvar
126118517 10000.0 AG... A off_target 1/1 423 None None None 0.66933 0.66930 0.43896 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 . 126118515 210.0 CG... C low_variant_fraction;off_target 0/1 418 None None None 0.39946 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs796618287
dbSNP Clinvar
37436632 444.0 CCT C off_target 0/1 666 None None None None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 . 37436632 10000.0 C CCT off_target 0/1 661 None None None None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs309455
dbSNP Clinvar
37432264 10000.0 T C off_target 1/1 376 None None None 0.85104 0.85100 None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs309459
dbSNP Clinvar
37429661 10000.0 A G off_target 1/1 339 None None None 0.85204 0.85200 None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs309460
dbSNP Clinvar
37429497 1101.0 C T off_target 1/1 38 None None None 0.59724 0.59720 None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs2768658
dbSNP Clinvar
37426804 10000.0 T C off_target 1/1 131 None None None 0.57029 0.57030 None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs2736664
dbSNP Clinvar
37426524 10000.0 C T off_target 1/1 505 None None None 0.91953 0.91950 0.07789 None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs2768659
dbSNP Clinvar
37426152 10000.0 A G off_target 1/1 208 None None None 0.48982 0.48980 None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs2235096
dbSNP Clinvar
37425242 699.0 C G off_target 0/1 51 None None None 0.29693 0.29690 None None None None None None GRHPR|0.097590838|51.6%
View 53586-full_variant_table 9 rs4878690
dbSNP Clinvar
37422656 1786.0 C T off_target 0/1 245 None None None 0.30351 0.30350 None None None None None None None
View 53586-full_variant_table 9 rs67294455
dbSNP Clinvar
37422521 490.0 CA C off_target 0/1 48 MOTIF[MA0162.1:Egr1] LOW 0.40256 0.40260 None None None None None None None
View 53586-full_variant_table 9 rs10760283
dbSNP Clinvar
126139065 10000.0 G A off_target 0/1 399 None None None 0.33546 0.33550 0.42789 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs2797947
dbSNP Clinvar
126138961 10000.0 T C off_target 1/1 136 None None None 0.95986 0.95990 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs4838055
dbSNP Clinvar
126138918 1166.0 C T off_target 0/1 77 None None None 0.22983 0.22980 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs4838054
dbSNP Clinvar
126137865 1255.0 C G off_target 0/1 93 None None None 0.42232 0.42230 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs12342024
dbSNP Clinvar
126134232 1183.0 G T off_target 0/1 101 None None None 0.12500 0.12500 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs7866308
dbSNP Clinvar
126129730 345.0 A C low_variant_fraction;off_target 0/1 82 None None None None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs151156783
dbSNP Clinvar
126129725 219.0 A C low_variant_fraction;off_target 0/1 89 None None None None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs10760281
dbSNP Clinvar
126129351 3216.0 G A off_target 0/1 263 None None None 0.29173 0.29170 None None None None None None CRB2|0.035723803|67.22%
View 53586-full_variant_table 9 rs11790447
dbSNP Clinvar
126128679 10000.0 G C off_target 0/1 591 None None None 0.32288 0.32290 0.31693 None None None None None None CRB2|0.035723803|67.22%
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