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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 30
Number of Genes: 2

Export to: CSV
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ABCB5

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 12061_s9 7 rs2301641
dbSNP Clinvar
20698270 100.0 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs6461515
dbSNP Clinvar
20778646 100.0 G A PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs10254317
dbSNP Clinvar
20768013 100.0 G A PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 None None None None None None ABCB5|0.12579132|46.5%

PIK3CG

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 12061_s9 7 rs849390
dbSNP Clinvar
106508987 100.0 T C PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%
View 12061_s9 7 rs849389
dbSNP Clinvar
106508978 100.0 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%
View 12061_s9 7 rs755134917
dbSNP Clinvar
106508905 100.0 G A PASS 0/1 27 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34 0.72 None None None None None None PIK3CG|0.990082262|1.08%
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 12061_s9 7 rs10272030
dbSNP Clinvar
81350223 100.0 G A PASS 1/1 57 None None None 0.88459 0.88460 None None None None None None HGF|0.997497848|0.6%
View 12061_s9 7 rs12536657
dbSNP Clinvar
81350208 100.0 A G PASS 1/1 57 None None None 0.88478 0.88480 0.14923 None None None None None None HGF|0.997497848|0.6%
View 12061_s9 7 rs1800793
dbSNP Clinvar
81346685 100.0 T C PASS 1/1 27 None None None 0.79832 0.79830 0.24696 None None None None None None HGF|0.997497848|0.6%
View 12061_s9 7 rs10280418
dbSNP Clinvar
20784677 100.0 C T PASS 1/1 25 None None None 0.82987 0.82990 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs12669866
dbSNP Clinvar
20782474 100.0 T C PASS 1/1 20 None None None 0.54333 0.54330 0.49300 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs12669400
dbSNP Clinvar
20782319 100.0 T C PASS 1/1 21 None None None 0.79433 0.79430 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs6461516
dbSNP Clinvar
20778773 100.0 C G PASS 1/1 61 None None None 0.80052 0.80050 0.18053 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs13229035
dbSNP Clinvar
20739839 100.0 A C PASS 0/1 116 None None None 0.11881 0.11880 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs5882753
dbSNP Clinvar
20739774 100.0 AT A PASS 1/1 116 None None None 0.86362 0.86360 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs12700230
dbSNP Clinvar
20739672 100.0 G A PASS 0/1 38 None None None 0.11542 0.11540 0.17003 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs11762180
dbSNP Clinvar
20739632 100.0 A C PASS 0/1 38 None None None 0.15475 0.15480 0.21252 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 . 20739336 100.0 GA G R5x9 0/1 29 None None None None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs11764760
dbSNP Clinvar
20721084 100.0 T C PASS 0/1 111 None None None 0.18830 0.18830 0.18684 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs12700227
dbSNP Clinvar
20698602 100.0 T C PASS 0/1 64 None None None 0.12320 0.12320 0.11191 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs3213623
dbSNP Clinvar
20691013 100.0 C T PASS 0/1 97 None None None 0.28934 0.28930 0.26580 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs3213622
dbSNP Clinvar
20690885 100.0 T C PASS 0/1 96 None None None 0.34046 0.34050 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs11976848
dbSNP Clinvar
20689807 54.0 A G PASS 0/1 22 None None None 0.12540 0.12540 0.09990 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs849397
dbSNP Clinvar
106523446 100.0 A G PASS 0/1 33 None None None 0.09964 0.09964 0.14132 None None None None None None PIK3CG|0.990082262|1.08%
View 12061_s9 7 rs11983326
dbSNP Clinvar
20685508 100.0 T G PASS 0/1 78 None None None 0.32228 0.32230 0.35155 None None None None None None ABCB5|0.12579132|46.5%
View 12061_s9 7 rs849370
dbSNP Clinvar
106519943 100.0 T C PASS 1/1 86 None None None 0.94070 0.94070 0.07919 None None None None None None PIK3CG|0.990082262|1.08%
View 12061_s9 7 rs5745646
dbSNP Clinvar
81381326 100.0 C T PASS 1/1 98 None None None 0.86941 0.86940 None None None None None None HGF|0.997497848|0.6%
View 12061_s9 7 rs5745676
dbSNP Clinvar
81372156 100.0 A G PASS 1/1 30 None None None 0.86362 0.86360 None None None None None None HGF|0.997497848|0.6%
View 12061_s9 7 rs5745686,rs796107510
dbSNP Clinvar
81359116 100.0 CA C PASS 1/1 62 None None None 0.86282 0.86280 None None None None None None HGF|0.997497848|0.6%
View 12061_s9 7 rs5745690
dbSNP Clinvar
81358712 100.0 G A PASS 1/1 30 None None None 0.86282 0.86280 None None None None None None HGF|0.997497848|0.6%
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